id subject predicate object category agent_type aggregator_knowledge_source knowledge_level negated original_predicate primary_knowledge_source bd6d8bec-1bf1-4391-bdae-3ccff7c4b6ec CLINVAR:586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aff36074-83e4-47bc-8cda-54345ef02ccd CLINVAR:586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b79f3e42-4ed6-40ce-9a18-fb526d53dce1 CLINVAR:102844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a487921-9de1-4563-860b-a86b80fcf1cd CLINVAR:102844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01260cfc-d626-4533-8757-4a7ea764bcb2 CLINVAR:102736 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4695a864-80da-4054-99e7-7e8c0a1fbe5f CLINVAR:102736 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeb44eca-4daa-4ebe-80e4-fd2ed15b6b2c CLINVAR:102705 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f346bdc-d7df-4f13-a769-581783237f9d CLINVAR:102705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cad2781-6d64-4fa6-9513-771336b18aac CLINVAR:102518 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee75f552-4d35-446a-a84d-7f5ca63571ce CLINVAR:102518 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60c3c3f9-b049-4f80-838f-6e6a9492c5c1 CLINVAR:102498 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 293cd0ec-e883-4021-a304-9b82804575fc CLINVAR:102498 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aa941ae-dc34-4739-9766-65954e5fc7de CLINVAR:102475 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e25d18c-00ea-4625-8103-c20c27b6d665 CLINVAR:102475 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16ab25a7-13ee-4d39-bd6b-a40250b77049 CLINVAR:92752 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac04e4d3-87cf-4165-ab86-9cbf6f597090 CLINVAR:92752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 645b0a1e-681d-4152-b0ac-79a2eed2904e CLINVAR:581 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 630c5980-4956-423b-bc22-196cf81400ad CLINVAR:581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea8a1739-37ef-40a0-bbd0-58fdefe6d99e CLINVAR:102693 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8ce9428-a3ec-4f40-85e4-9716b09481c4 CLINVAR:102693 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed752d82-4632-49da-a479-340b66551ba5 CLINVAR:102723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4a3992b-36cf-461e-8c4a-cb0c04dd7ebd CLINVAR:102723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34c8b0fb-11eb-4abf-80ad-d1d26f0a9bad CLINVAR:92737 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d30568a-186a-439b-a3c9-3cb57fd7fccc CLINVAR:92737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b3993cb-075f-4bef-a2e8-08ca2bd2bb21 CLINVAR:102742 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c255d31-723b-43c3-9b1f-4cdc1e70d02b CLINVAR:102742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38b7d75c-19ac-45d4-ab0a-09833f1313a0 CLINVAR:92746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d759b63-80ef-499c-b2f9-0d39bfb46d2e CLINVAR:92746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82cd5629-39c0-4dd6-bdd4-a0fc1d44424c CLINVAR:92741 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b9c0768-f9ba-48a6-a364-01dedc4594fe CLINVAR:92741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 655c47b9-2c22-4ee6-9100-d16f6c39c22c CLINVAR:306914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ff2c21c-5564-4fdc-8ed9-5f73ea422ff1 CLINVAR:306914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95cd48fe-01a6-41b4-9cea-f28a3774ce92 CLINVAR:102703 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24db84e9-925b-4106-a264-8c15bd893f6c CLINVAR:102703 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0f204ae-5751-4ab7-b136-996f141cdd84 CLINVAR:102687 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 136613aa-7e8c-498b-8dce-5da8d09eaeb6 CLINVAR:102687 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f3a73a-7525-4ffb-97da-52c6d1ac3a9c CLINVAR:102716 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56f5a0b9-d48a-481d-b6ef-92ee8735c089 CLINVAR:102716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fba2c2bf-204a-4b3b-8782-970f1f3e21ab CLINVAR:102601 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28d905ec-1a06-428c-ba15-5f1907fa33a5 CLINVAR:102601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbc3afff-6863-468d-ac0d-65684f3888ac CLINVAR:102729 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c281069e-d913-4a50-b26a-a015c09662e3 CLINVAR:102729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24bb4b44-4701-49c3-b7a0-4b0ff9d1a509 CLINVAR:102871 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66231da1-36f4-4459-b786-11fb8cf388c2 CLINVAR:102871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c72bfdaf-1c8b-49d3-adc2-5c01fdc9d521 CLINVAR:92743 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7b29692-79c3-4cac-af4e-c8049050b519 CLINVAR:92743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff5ae8fb-6adc-4382-bc40-ea2f42c42d5e CLINVAR:102706 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9332230b-196d-47e8-b712-901ae6a29835 CLINVAR:102706 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aeec2c3-04aa-40a0-b618-8011297144b9 CLINVAR:120273 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f1c58c6-9fe3-4a00-b781-45823550cdb3 CLINVAR:120273 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7f9e459-7afc-4bad-a6b4-8e3e370264b9 CLINVAR:92729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 162a4a05-17d6-4e80-89ca-199ec834ac75 CLINVAR:92729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfd81689-6fab-4f0c-838f-98d708e98c19 CLINVAR:598 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen acc09a8a-d6b7-4719-8440-e9b8f56f54cb CLINVAR:598 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80c92f8-b011-4e68-94cb-d4a3c9a53e32 CLINVAR:636 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d195153a-3485-48ce-bde8-9670794aad10 CLINVAR:636 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7542046-cbf0-43dc-b1d7-ac4ce4ae3b68 CLINVAR:120287 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9ed7b6d-61d7-4a4d-a1fe-85aef19c5d30 CLINVAR:120287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 805e897b-74dd-4605-8654-4a1955489b93 CLINVAR:92740 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8f3b584-b056-4c09-941f-a336302bbcbe CLINVAR:92740 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9d7d74-2a38-46b9-b525-09bece7a51bf CLINVAR:120271 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9368e8de-92f5-4583-a9ba-9246aaad11b3 CLINVAR:120271 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5063e490-e494-4ada-83cf-0ea8fa0627f0 CLINVAR:225135 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ed4c565-c1d1-44c3-b088-16f6bdc9daa8 CLINVAR:225135 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b93c8cbb-65c3-4adf-b0e2-3427e0d5cb84 CLINVAR:102821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72017c3b-ee42-464e-bec0-2c323d1ab790 CLINVAR:102821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65660746-5953-4390-8b80-60fe80ad4c46 CLINVAR:603 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8279eda-de4f-4121-a8f3-98045dbc275c CLINVAR:603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1fc5486-69a7-411c-985b-c34fa54ffc80 CLINVAR:599 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a680a863-4a5b-488e-afed-75a8595abbd9 CLINVAR:599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31696e71-0ec0-4a31-8070-145283888072 CLINVAR:632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e2b78ca-231b-4736-9598-e1fcd6013307 CLINVAR:632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf90201f-daaf-4920-a75d-8e9258df5e5e CLINVAR:102483 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1dc018e3-453e-4f80-8355-fa59038c043e CLINVAR:102483 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45c2669d-fd2e-4f33-991c-41bd3bb042ba CLINVAR:102557 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 576c5427-7226-4012-8a51-9d3de32d4941 CLINVAR:102557 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad709549-c689-42d2-9043-da76199b7ecc CLINVAR:102696 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e662bf75-6061-43bf-b015-243bcef46fa2 CLINVAR:102696 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd626fbc-0a37-4efd-994b-66538f96172b CLINVAR:102913 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 748a2d47-690d-4fc0-85fa-30b477f8b006 CLINVAR:102913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec7450ad-e7d3-4312-9427-7309da2a2dbf CLINVAR:281073 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f72c5f43-70da-4bdb-bc79-b2a4e963f08e CLINVAR:281073 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52e372d2-2809-45ea-b820-7ae7b362d4b7 CLINVAR:439228 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 902ed500-57a8-4497-bc52-508905a5a46f CLINVAR:439228 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59fc2beb-fe77-4ebc-b718-ab44776f9e21 CLINVAR:92742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a863090c-b26f-4f9f-ac8c-3e734ad54600 CLINVAR:92742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f55a650-0917-4110-94c5-abdde0db59f5 CLINVAR:577 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c09a279-1c0a-426d-9b4e-8e7135a56de4 CLINVAR:577 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8367effd-1649-424a-9383-3ef3ca329a1f CLINVAR:596 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b616a4d8-ba66-412f-9a6f-bcc4b807f6bf CLINVAR:596 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d48283-ccee-4df8-a13b-7103d49c10d9 CLINVAR:102650 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82b44954-4202-4567-92e5-9901f7e2a319 CLINVAR:102650 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cc50804-1daf-4eda-b7d0-78b5508560ad CLINVAR:607 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39291f35-7520-4c4a-bf69-712618c09b36 CLINVAR:607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8ff5efb-187b-41ba-adb1-a9083998b070 CLINVAR:617 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a1b57c5-96da-48cb-a9ff-ec05991bec01 CLINVAR:617 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d7abdba-2317-46cf-b43e-311e14d15675 CLINVAR:610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cc1750e-6282-49be-bd6a-4b86561e9e57 CLINVAR:610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a337a1f2-caa9-40db-96f6-9c3ec3a5b0b4 CLINVAR:576 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63e7b504-0dd5-451a-95c1-439cc07b6315 CLINVAR:576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fa7c91a-e4c1-443e-bbb2-17dd2013c604 CLINVAR:593 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a236e872-cb45-4290-9fa7-4c65a294cab1 CLINVAR:593 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edd6ce5d-576c-4358-b99b-be080684d164 CLINVAR:582 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e090db2-b5d7-4300-a48a-edd9ebaa7e9a CLINVAR:582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 073093b3-fc8f-4689-a9cb-f71e887dd905 CLINVAR:592 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39966174-df48-4f75-a37e-61ceebf73af2 CLINVAR:592 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16e7a489-a19d-4eaf-a175-3d7aadf58b39 CLINVAR:102632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62cd07fa-75b7-4748-8448-3c35b4880baa CLINVAR:102632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0a796c9-27db-4081-aada-d866a340ba2a CLINVAR:612 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a381d3e-8131-4a68-9008-82c31209a8ad CLINVAR:612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 386958a0-c15c-4b44-a3b4-bf6b391e5e5b CLINVAR:376937 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb3a1247-ef45-4b0b-b2b5-0ec8f48660a9 CLINVAR:376937 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b14a2ff-2a0c-423c-94c1-b89a027a048f CLINVAR:619 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e62f99f-24f8-404f-b8f3-538b75578c03 CLINVAR:619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b63b0570-deaf-4245-930e-524815607456 CLINVAR:102784 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a1dd291-1a99-40a0-9ac5-e6f25a5b3779 CLINVAR:102784 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aba87dcf-8e1e-45b9-812d-2e071a379d58 CLINVAR:628 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acbd35f4-03e4-4084-8061-de23e0bbb700 CLINVAR:628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ba76ee-22ea-4bb4-9029-a636c807dac4 CLINVAR:594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a20dac98-43ee-470a-a085-237901319295 CLINVAR:594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd47ff4-4bde-46cf-a8a2-9404f24757ca CLINVAR:102803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1152c5e-d181-44f4-aabf-386c2899b5d8 CLINVAR:102803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a54f822c-b210-4edc-b9d0-a16a6e72ba89 CLINVAR:102804 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e99b57a-40a2-4605-a22d-9af22583f337 CLINVAR:102804 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f97620f-af3e-435f-b5c2-ff3b9f052e41 CLINVAR:92731 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbcb496c-b557-4f40-88eb-42b258821bf5 CLINVAR:92731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa71b6ae-705f-45f9-b9b1-90c6b4da6484 CLINVAR:601 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb0ba203-41f8-4014-8231-f377baa69749 CLINVAR:601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23795875-52cd-4f7b-ae8f-a34e84ffeebd CLINVAR:625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af895565-3b56-4d65-b9b1-79cbf51ad037 CLINVAR:625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a0c9e97-b74b-42fe-a561-950e51fb6bbe CLINVAR:92751 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4358cd45-2ea8-4778-a177-c1a87c99a038 CLINVAR:92751 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c55bc01-82dd-4cff-8d28-8f53b0fa00a1 CLINVAR:588 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adfb0b5a-e252-491d-9f9c-b767908ad6f9 CLINVAR:588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a37fcf4-c8dd-4066-a6f6-350b8e019f41 CLINVAR:584 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebc1e4b5-2392-4dd6-92b2-6325ced8c3ae CLINVAR:584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2cb40f0-29a3-4fae-8799-9238cbad61f6 CLINVAR:102824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd5a1521-0ef2-4af7-9ea2-f6fd90c6442b CLINVAR:102824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fc06deb-223a-4841-bec3-08deb26e6f36 CLINVAR:92747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa2bc948-2fba-480f-b448-29486c32b0a0 CLINVAR:92747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ef0af15-c7c0-4c96-bcd7-95c877f1509e CLINVAR:92753 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5e4663b-701b-40e6-991d-e57b9170d211 CLINVAR:92753 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9ae328c-4e86-4486-a9d3-2eb150a78e1a CLINVAR:618 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ceb3ff56-3245-41ce-9d66-88b14381135a CLINVAR:618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ebecf2-5f3f-4ff5-be9e-866c04c87423 CLINVAR:102720 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 419b32c9-8f20-4847-be3b-5bfbcd24ca2f CLINVAR:102720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fa6fd6d-30f3-4e10-8d48-5b2f74fca1eb CLINVAR:92744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c98e72a-942d-49b6-8239-3e24d6dfd2c0 CLINVAR:92744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50134f23-36ae-4b6d-b593-ccb96f3be815 CLINVAR:102698 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d453db1-0e05-4885-8ef9-ce2588db9d75 CLINVAR:102698 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 097edab6-c357-4aef-af9b-6f70ad98a3f1 CLINVAR:595 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49160bf3-e62c-4bc4-80b6-0aaf759b6109 CLINVAR:595 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2efb6e60-e6c1-41bb-8e26-964aa0bca51e CLINVAR:142269 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cda45ac-f489-4bd6-8f5f-cbdcccab42c0 CLINVAR:142269 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 830bb998-4e26-4414-871c-dc37e3557793 CLINVAR:185989 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7697dcf6-32df-4c3a-ba1a-b3f9776f36bd CLINVAR:185989 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da109393-e9b6-40db-a277-f0790b03d8ff CLINVAR:142681 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd6a471e-c0b8-40d2-8c27-0cdb1d40e96a CLINVAR:142681 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 210892e6-031b-4491-8e09-331eadbda17b CLINVAR:127687 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80830378-71b2-4df9-8b76-f3cad3d39714 CLINVAR:127687 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62f1deaa-2104-4495-bfbb-50bc80210f4e CLINVAR:187673 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28d35923-eed0-4ddd-b577-0cea8e5c1449 CLINVAR:187673 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8d834af-a669-45b2-b3f3-6121b8b9dfa6 CLINVAR:7844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9dc9e590-bf13-4d13-9def-788083b71d74 CLINVAR:7844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79e3da6b-58cb-40aa-bb98-a502d342d94e CLINVAR:404147 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb4c014a-0c59-4607-8f50-fe71e01656fe CLINVAR:404147 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8d39a03-c5d9-4b30-b9f7-548c54c28577 CLINVAR:184104 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d808407-360f-48f5-aff2-aa9e6ccc5266 CLINVAR:184104 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd923527-b476-4c7b-92ed-5694c8d983fc CLINVAR:187590 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da2820ff-fde5-4169-9aa7-f407ebdb42d4 CLINVAR:187590 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e62986d-4db7-463e-bf92-64e6a7f1dbe1 CLINVAR:189462 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a3cad31-f321-4311-95a5-39bf892dafbe CLINVAR:189462 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4965d080-d98b-4ab5-ac5a-a9637639965b CLINVAR:189441 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf092f6e-5e73-4658-8748-e736bb065476 CLINVAR:189441 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbd17e9b-4497-418a-9e7b-910019ac269d CLINVAR:187657 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 545be74b-0a1f-4e20-8f7a-22795157df99 CLINVAR:187657 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffc81502-d3a3-4aea-861a-7275176c42c6 CLINVAR:185213 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 336c30d0-c07b-4606-b1fe-ba8a9abfcacf CLINVAR:185213 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f085c91-78cf-419f-90ee-0a2340dfa6c5 CLINVAR:189411 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdac1345-8116-4a93-8194-fe32bfc8da81 CLINVAR:189411 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8082dd7f-110f-45bf-9a87-6615f021b88d CLINVAR:141654 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5b07b35-666f-4fda-bf03-46161520b1d4 CLINVAR:141654 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c21f4e8-ce25-4974-9d6d-4028979f9888 CLINVAR:141485 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 283f1446-23c9-4013-8124-de3c7fe19b8d CLINVAR:141485 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c6eb9e-fcc9-4e65-8263-7fe9f28b9c01 CLINVAR:220007 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ddf2519f-7569-41fa-9eb3-a41ba150d738 CLINVAR:220007 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d6799a6-82d2-4e51-bb54-b7d08abad57e CLINVAR:404140 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6feec98e-28ae-454d-af51-9f42bc3790a9 CLINVAR:404140 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 262f75b3-08f0-47bc-85da-637a7d5c994e CLINVAR:92816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c269b368-84d8-41c6-b63d-9656dc7c0720 CLINVAR:92816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14a7ae86-645f-489a-aedc-d86bd3b73aa3 CLINVAR:142423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0fef6db-86c8-4b68-8094-a683ace8c596 CLINVAR:142423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19a8e7bf-3bf0-4ef9-be35-09570b83e80d CLINVAR:183722 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60e6531e-a5b4-4c0a-9b0e-8a4ee62d606f CLINVAR:183722 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 829a8c5a-fa45-4c36-933e-4e9f3580277a CLINVAR:231916 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b0e4090-59ed-411e-b708-8605ad7ebf71 CLINVAR:231916 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de425345-7ed2-491a-8301-93925d44e39c CLINVAR:7829 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13861e8b-5ac9-4b85-abf4-3a49cbe6887e CLINVAR:7829 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6368840f-702d-40af-a3f6-3a7e6784aea2 CLINVAR:189406 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0326b0b-92bd-474d-8b4e-10d9184df5c6 CLINVAR:189406 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bcef587-ed19-4ed9-ae55-7d0f5efb16a7 CLINVAR:189500 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb70bc68-2f56-4119-a25d-0f44c0774568 CLINVAR:189500 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 426618c5-6a5d-40d0-a299-4c94e536ca0b CLINVAR:92822 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ad342a4-5bc0-40ea-be18-ab43abf917b2 CLINVAR:92822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ed92951-9d57-45ae-8398-62949852950e CLINVAR:127674 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e35eec3d-508f-49e8-b3d7-f27e366cea82 CLINVAR:127674 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe895588-9dfe-4de0-9677-562da019c9a4 CLINVAR:189424 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d6d661e-4420-442b-8051-decae64e20ca CLINVAR:189424 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d242e84b-0f86-42aa-8460-01afe6ed6693 CLINVAR:7824 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4859fb8-fe70-49e8-9832-646e181dd3e4 CLINVAR:7824 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3380318-fcf8-477b-88af-4a7f179705db CLINVAR:7814 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 894b5eae-c332-462f-9a3e-fca401aa5df3 CLINVAR:7814 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcc7d6ec-e825-4fab-bf27-8bd3a4ea98ea CLINVAR:7834 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c606693-f9cc-4917-91cd-496e916122cc CLINVAR:7834 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b0dc531-aec4-427d-bea0-9d7e1e98a3b7 CLINVAR:7815 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28edf61b-bf78-4db6-b6b7-f683e9d19b44 CLINVAR:7815 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf4bb28-8d34-456b-9a30-68ede95e237f CLINVAR:7816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd4c7efa-dd7f-429b-808d-99d1d426c602 CLINVAR:7816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bebefec-ab9d-423e-91ab-7c939bb695a3 CLINVAR:142220 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce17eeca-0115-4822-b329-2a6902473c3c CLINVAR:142220 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ade65532-422d-44d1-b28e-77e2388fabe3 CLINVAR:6613 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b95afa4-2e4c-4e10-b412-9182bdd7b0b9 CLINVAR:6613 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a771357-cd19-4aaf-950c-428cf61a4a22 CLINVAR:585322 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5191ca65-9e13-498e-afee-97f4b0330dc3 CLINVAR:585322 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8645c67f-d9b9-44c1-aa1e-e02a1f2aa286 CLINVAR:585327 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd5a5ee5-4a1c-4e5c-965a-fe9d000dab30 CLINVAR:585327 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07c9171a-3a96-4a99-b28b-e7522fc3a20d CLINVAR:17014 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4907b689-d93d-4edc-b192-aabb742e379f CLINVAR:17014 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 703dd69e-a245-487f-9b08-d1c9bd759334 CLINVAR:505302 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a9c19d8-afa6-4257-9582-9e98db7a6154 CLINVAR:505302 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc18c3df-afcd-475e-992f-5e3e33d263e2 CLINVAR:17004 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba39236d-9c2a-4957-bfe2-555f28683715 CLINVAR:17004 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5152110e-0331-4864-b731-d291d5d94c46 CLINVAR:44740 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 094bbc4b-3cd7-4f13-810b-1d8c0b8441aa CLINVAR:44740 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e69f244-40e0-4639-b5d6-6057f9b0c62b CLINVAR:177859 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16aff91d-da45-4c21-9769-755ac2168b7d CLINVAR:177859 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df4f75b2-df08-485e-8787-6274d8a40187 CLINVAR:506273 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aacdb53a-2652-4ca0-8e03-bd58b2091b0b CLINVAR:506273 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66ea67b5-6c7b-42d7-985a-a7d95051cf0f CLINVAR:166499 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d76390f-106d-4c7e-8ad1-90b285b0db7f CLINVAR:166499 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33b40c0e-5a08-41c1-afe1-8914071b5ee5 CLINVAR:198366 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 735a8cca-c355-4672-aa19-9d30b06f5b92 CLINVAR:198366 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c121316a-15f0-4358-9e6a-6004168a26d8 CLINVAR:43546 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a86e34d4-9628-40a1-b688-7d09d675b04d CLINVAR:43546 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3112d99b-a70f-4824-8667-ea9a8ae0d54b CLINVAR:179542 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b675e8dd-4ef1-4321-84bb-39b08a505da0 CLINVAR:179542 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a3ee0e4-0d6a-4d78-b275-b2ac41eb77d8 CLINVAR:517357 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c374c1b7-14ba-4aed-a1be-ec6ed89680e7 CLINVAR:517357 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab23cdcc-0115-443d-8252-be012d523293 CLINVAR:178957 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b6d5fae-e168-43ee-bc7e-ee4f0284b5e5 CLINVAR:178957 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7fc2d97-c5d3-4f81-8044-5ff45a476116 CLINVAR:228491 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ec37c06-166d-4202-a00c-66fca9b8755e CLINVAR:228491 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d34eb51-72e7-4550-a516-860c301a28b3 CLINVAR:161326 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d01cb2de-6e4a-40c0-a175-cedaadfc7522 CLINVAR:161326 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17da4402-c6f4-4427-ae23-56535399a3aa CLINVAR:43085 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19bc5bde-38f0-49e1-a9e8-bc16f105cc43 CLINVAR:43085 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e3d244-3eab-4c33-b6ed-2aab22f734cd CLINVAR:43029 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26488482-ffad-41bf-823d-040d48b01649 CLINVAR:43029 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 278653a6-7e3f-4e07-b1d7-fbe7a0328eb6 CLINVAR:42965 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2eb354bc-9f5d-41a7-9ed7-0bd70d782352 CLINVAR:42965 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54031fa0-8b7a-4c18-8571-d24963a7ddfe CLINVAR:43011 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fbfbc20-e774-46a2-bdda-c458c7f50dad CLINVAR:43011 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feff920c-a231-41b2-baf6-15367e43bef5 CLINVAR:43005 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa2ba14c-26cc-4f67-bc7d-2c11a28e8658 CLINVAR:43005 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad04bae9-2cca-4bfd-a008-671169c21a45 CLINVAR:43003 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32ac5073-ec24-4ea8-99de-ac86aa771f35 CLINVAR:43003 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9673e26-ca76-4240-8218-1fbf66169464 CLINVAR:42992 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23d12ddb-9d65-4ec0-80f6-c9bea75ad42b CLINVAR:42992 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a34c412-b97a-4548-9975-30e280c7203c CLINVAR:164294 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5511e6b1-3c6f-44a3-8981-12b149715ac8 CLINVAR:164294 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 404b9c93-1e6d-467b-8e11-2cdb42cc0ae7 CLINVAR:43088 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6c846fb-4917-416e-8f3c-f4a4f031e98b CLINVAR:43088 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52ef4144-6cd0-4658-9986-b100374bbe2a CLINVAR:42968 biolink:genetically_associated_with MONDO:0009144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 590c5d5d-35ed-4f4d-83fa-1272898f5be3 CLINVAR:42968 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 753f5947-5994-4af5-a201-e180427dfe2e CLINVAR:42950 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c1dc1f2-a2a2-4307-8200-b9cb63dbf964 CLINVAR:42950 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f4b16d-a075-460b-b442-3506bdd3400c CLINVAR:155814 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 041403fb-b5ff-420a-9a3c-ffe9082eeaf4 CLINVAR:155814 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7969b663-ed23-45b2-905d-5531c64e2394 CLINVAR:177753 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b53c37d7-593a-44b4-8096-5331af7bcede CLINVAR:177753 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37458d9a-aa14-4608-bb46-79f24b6dd25d CLINVAR:42934 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f2ae00e-61a5-4972-b3da-8757ee7fb12a CLINVAR:42934 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b3186ec-ddde-4eba-b89c-4ec6ac5f537c CLINVAR:14097 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe7070e5-2494-4ec5-86df-458777e96143 CLINVAR:14097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9bfa51c-c408-4746-90f5-1f150870dc22 CLINVAR:14125 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00c1e7a8-94c6-4b7c-8a0f-92fd1c15d600 CLINVAR:14125 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b36a1b3-32d9-4bd7-a185-f1f336ede53d CLINVAR:42922 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 374eefa8-7aad-429a-a2e8-edacd961b256 CLINVAR:42922 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9be131ed-ecb2-4228-9c95-d0f8dd23c48d CLINVAR:14120 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 869833f1-1fe3-4c31-96a6-3a323f6738e7 CLINVAR:14120 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6fb258c-45d7-4335-ac32-2f2ac59511b2 CLINVAR:177757 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97f4b335-37f8-4c63-a40f-0cffbf3a38a8 CLINVAR:177757 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e46f1b6d-a6e2-4247-af51-142ee3e0d8a2 CLINVAR:42913 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2414e460-e635-4885-b806-e86f7c3bb76c CLINVAR:42913 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acf70502-c3fb-4ea9-ab87-870f61abd170 CLINVAR:42910 biolink:causes MONDO:0005201 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3aa10832-ca0b-413f-a916-4b5fd311f46a CLINVAR:42910 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28a4df50-a294-4389-89bb-cb418a37491c CLINVAR:177665 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cabae95a-f20e-4d3c-9caa-4b95f22cfde4 CLINVAR:177665 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca59580a-a68b-4307-b4f9-77f131078f67 CLINVAR:14098 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e44780ea-0ced-41d5-ae73-9e29d41098d9 CLINVAR:14098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fe9d774-4cf9-4f10-b56e-fad9fb6b9c30 CLINVAR:164342 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3d232fa-857b-4d25-b1da-0ff0b03a899a CLINVAR:164342 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed29193-0a4f-4cc4-9230-b5f2a6f88cf6 CLINVAR:14095 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e2fb969-cd01-4771-8fcf-b23486051e7f CLINVAR:14095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26af1b38-71d1-4b98-9d2f-a1254d362ffb CLINVAR:42885 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0914cdc-f187-4519-8819-583da3a68fc8 CLINVAR:42885 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1284419e-e811-4b14-8f59-c27069a9603a CLINVAR:43076 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e69c91a1-9c0b-4bba-aa2d-ee03cfd27720 CLINVAR:43076 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4a43400-9a3f-4c5d-bb7e-970f73575d5c CLINVAR:43069 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 381e7852-e67d-47f3-8416-fa69a6bb6157 CLINVAR:43069 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62e1902d-22d9-449e-a405-ffc1af1d0b81 CLINVAR:177697 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f0abdf6-5dc5-4885-b8a6-1c21d61f7bd0 CLINVAR:177697 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9a8e49c-dcdf-4762-adc0-6593449231d4 CLINVAR:177629 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2f7a3d2-12da-4246-b3fe-7d3f4b9994fe CLINVAR:177629 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39b1a85a-9bb5-4047-b357-9c74984a5598 CLINVAR:43059 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12268992-26b0-4bb6-8269-642991d5d2dd CLINVAR:43059 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00460c0f-1fcd-4855-9590-ea9c159b2a02 CLINVAR:14107 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88ba7a98-6b2c-4fe4-81fc-335679894052 CLINVAR:14107 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff93072b-a35b-4be9-9e5e-4dd74f0b0a7f CLINVAR:14104 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98c40558-13e7-4fee-98d6-090f70a4f213 CLINVAR:14104 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e32b92bc-bf5b-4887-be61-25db405eda15 CLINVAR:14105 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e523318-cd2b-4d43-8980-57f54cd6bc65 CLINVAR:14105 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96beebac-26f0-4830-99a5-d5206882b33f CLINVAR:42875 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12b887cf-4b7e-4997-99bd-d845669e95ed CLINVAR:42875 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2394610-48b7-4d60-9d19-72ab6d32bf36 CLINVAR:14090 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5382f7ef-734f-441c-ad45-6ff7dca93aae CLINVAR:14090 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cad2842-cbda-4227-a757-962f28db4be7 CLINVAR:14108 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac371c61-b675-4412-a574-efc3249eaca1 CLINVAR:14108 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b92a40b-767b-4833-8311-e90f65ad16dc CLINVAR:36642 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 904266ca-207a-488a-b7df-5bd6cbcb6ea3 CLINVAR:36642 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a238f19e-d02d-43a8-9fa5-c49ced923dd9 CLINVAR:177817 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f6cb6a2-b424-48ad-bca0-992ddd6c4f55 CLINVAR:177817 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dee12e3-679b-46ab-bc89-26e99ea954cf CLINVAR:14087 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15dfbbc2-dcbf-4ee9-90ac-72f67b647655 CLINVAR:14087 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5704bba8-1b5f-4fae-b581-0ae8edf0d3d4 CLINVAR:14102 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c9680c9-d640-491b-adf8-d2551a5c93c0 CLINVAR:14102 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28474d2c-102e-4fd2-8a12-00829ae46885 CLINVAR:42838 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71f2927f-ae36-4a75-97bd-68e7834ce182 CLINVAR:42838 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c159a64-52d2-4b32-904d-3083c865eee6 CLINVAR:164378 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 305b8f0e-2ae1-4c19-82b5-a47d1a2380d9 CLINVAR:164378 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12105b42-8c70-49f2-97d5-9dc452b7bb85 CLINVAR:42822 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2243194f-f4b7-48d8-b03b-41304944e15b CLINVAR:42822 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c44c9be-dcfa-46c3-8234-73f6a1ad11af CLINVAR:43106 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51d0e41b-81b9-4ee3-9033-d65beedbbe83 CLINVAR:43106 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee8b5e17-fcf2-4edd-a40e-4b6f8fde7d4e CLINVAR:43006 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b149a3f-7300-4a38-9353-4b899256aded CLINVAR:43006 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e1eced5-bfe0-45dc-afa0-89c819b21999 CLINVAR:40649 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8908a5e9-08f9-489c-867c-2437b83a7684 CLINVAR:40649 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5633f596-74d8-4367-8f01-b6f252b4d7d8 CLINVAR:181528 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fbe0c1d6-3bb2-436b-af0f-61372573576d CLINVAR:181528 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a6e1aab-5f77-44b8-9d36-c239e688ff56 CLINVAR:40634 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3829642-fa41-403a-8abc-d9255242a4b1 CLINVAR:40634 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6945cc9a-4d0b-4ef7-8127-b7b8c9a3daf6 CLINVAR:6821 biolink:causes MONDO:0054637 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bc534d1-94d4-4a07-911c-7320f9bf37d1 CLINVAR:6821 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11450072-55f3-489c-859d-1187c92989f0 CLINVAR:40601 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81cbd35c-4ca1-42bf-8148-4bc69162bea6 CLINVAR:40601 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd0b60c5-d625-4468-95d2-955b1cfb2da3 CLINVAR:40607 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b35718e-5927-4488-9007-2f8ff34e90ab CLINVAR:40607 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4b168b3-c2ed-4fd1-91f8-ab294e2fc188 CLINVAR:40600 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb5179c9-8d15-4550-9abb-4c9efea9f6d7 CLINVAR:40600 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 285d3f6e-2410-414c-9763-dbf3a32bef46 CLINVAR:40613 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f8cc085-c2e6-4ab7-93bb-ac5a858dfa40 CLINVAR:40613 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3feefe1f-9137-4682-a6eb-2b732801491a CLINVAR:40614 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a7d3c00-6756-4337-a217-b4c2be3f3922 CLINVAR:40614 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 197395d1-7b3b-48eb-ac41-255892a4c542 CLINVAR:40520 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fac7e7d8-463f-4c94-9b03-95763f11fc64 CLINVAR:40520 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6ace859-66fe-4a54-a37a-9abc7703113d CLINVAR:40567 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f0be54b-b9a2-47f4-9af3-07f6453405b2 CLINVAR:40567 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f368cfe7-b4f5-4697-bcbc-d194a0e78553 CLINVAR:40522 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d42f7bd3-4aa4-4425-bc1f-8b4c63a7a6da CLINVAR:40522 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3af80744-ae0a-4d5a-bc78-cebd190c3979 CLINVAR:13344 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c6d4bb7-558d-472c-92b4-07544f199df7 CLINVAR:13344 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a30c32-1eae-4956-a829-20c9208a4510 CLINVAR:40504 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15129e92-d25f-446e-a98b-af4a524b658e CLINVAR:40504 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 550afca7-257f-4e12-961d-a3a02b6b1b4c CLINVAR:40484 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70dfb577-19a3-41b2-b116-63f942317064 CLINVAR:40484 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91159eec-68a6-47a1-8f4b-71381376d5bf CLINVAR:46242 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ceaf025d-f381-42aa-839e-c12ee229d4a8 CLINVAR:46242 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 502c557d-d179-4004-ab9e-75417a0ce505 CLINVAR:40786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 072374a9-671b-4bde-b882-9a41e745c4cb CLINVAR:40786 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55701282-6133-456d-a286-d9dfebf18c58 CLINVAR:40813 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed0f4fd8-a4ac-4beb-9c41-0053c840a39d CLINVAR:40813 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d8d9cbf-dcb8-4542-bc56-493d6c87a37d CLINVAR:40779 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbcf7165-2098-4e39-99d6-c6dddfe40a5d CLINVAR:40779 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac44473b-f3ca-4198-bb62-dc5cde8dc4bf CLINVAR:40452 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f3804f4-31f5-4c90-a871-b51b1662fb43 CLINVAR:40452 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 232d0572-51c4-45f6-8c4c-7c36aa53dd6f CLINVAR:12594 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0fd213d-4ff9-4efe-b45f-4d1463ad7b38 CLINVAR:12594 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cebb903-3770-4c18-b3a8-db90b1454bed CLINVAR:40435 biolink:associated_with_increased_likelihood_of MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7efaed1d-466e-473e-82f5-530bb7a5e59f CLINVAR:40435 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4866daa9-d782-449d-b710-eb829b261b82 CLINVAR:40439 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5602ae49-e778-4467-9ac4-2f4f52182ab5 CLINVAR:40439 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96e4749b-9f52-48fc-84ed-884576d9d6ef CLINVAR:177672 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d26c2f62-161c-43c7-8405-00527eca8708 CLINVAR:177672 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18e388c0-2ef1-412e-a3e0-5af7e0d8472c CLINVAR:40380 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa3b1e50-7dc6-4724-bce4-f0f168f91436 CLINVAR:40380 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0bfb4d2-5102-4c52-948f-e8e151daae3d CLINVAR:40387 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d8d1927-99d4-4d88-b971-2a9381a9ed04 CLINVAR:40387 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd2f111-29ac-47b6-a21e-890dfa326a35 CLINVAR:12586 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f36b13f2-ff44-41f7-aaf0-f8b9a61ea1ff CLINVAR:12586 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ac920c5-2eae-4503-a578-5de3e907cf46 CLINVAR:40454 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b99078b6-3440-42c4-b37b-73a12027c29b CLINVAR:40454 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98d8e098-d492-4a02-8fcd-d976499b42dd CLINVAR:12587 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bce6b20-66e7-441e-9758-f0c737ecdbd9 CLINVAR:12587 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae0d2707-21ab-4048-9dfb-cc06a2125975 CLINVAR:12588 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 638ac154-2f6e-4435-939d-115841006be6 CLINVAR:12588 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22800a41-3f99-4978-8ead-503c968084b2 CLINVAR:12589 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb85cf3b-084b-4442-b773-063a1044b137 CLINVAR:12589 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5050b16d-5696-45ca-ad70-820a6b98f623 CLINVAR:12610 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0ace46e-2ea1-495d-a9d4-2e6161944c04 CLINVAR:12610 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 290eb931-71ab-4c74-ae54-a2816b689d8b CLINVAR:12602 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13af8dd1-81db-483b-b6ca-c085d74edaf8 CLINVAR:12602 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f43674b3-7cee-41f2-8303-949d7ab14eff CLINVAR:12605 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 576af892-5a8f-40cf-b80d-d9f2f83d62d1 CLINVAR:12605 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de1e61d-a94f-49ab-b089-b830ea23afb2 CLINVAR:12606 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7925c36-01a3-4db6-865f-049d68e2a0df CLINVAR:12606 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a1b8f1-b4b7-48c8-82a6-74fe7d814ee7 CLINVAR:12871 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 856ba4a2-741e-45a6-aced-57781c59792e CLINVAR:12871 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e727fe39-6dc0-4e44-bbed-bfa76bebbf9b CLINVAR:40678 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9001f073-8441-477c-8f97-93db5dc3f856 CLINVAR:40678 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b1232d2-8dbb-491b-8fcc-c619609bf791 CLINVAR:40662 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62afdb4a-22e3-4f96-8c60-14d8f2b00768 CLINVAR:40662 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d57291d-b2b0-4a50-a3aa-bbb7485299eb CLINVAR:40706 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 068df324-6895-4ff1-b6ef-5167d8a3b3ce CLINVAR:40706 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8800d001-1327-4ac3-a85b-2eff8d995c53 CLINVAR:40651 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70ff982d-72fa-49f7-b3e3-10293754c33c CLINVAR:40651 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e53aa935-c25c-4fa9-a442-e999366ee8b0 CLINVAR:13957 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3461ec68-29b7-490a-84bf-464cc70ac3c5 CLINVAR:13957 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aa69748-21dc-4229-93f2-1da027ee7f55 CLINVAR:13958 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24096463-6895-4919-937b-6ebcbaddab79 CLINVAR:13958 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22d4ead2-5db5-4c43-af30-b289cc883847 CLINVAR:13960 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae5b2d5c-a1a7-402c-8392-411419089181 CLINVAR:13960 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ea94ff7-4882-438c-b724-d631ba6cb207 CLINVAR:21342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 015073de-5f9a-41e1-aec4-8c08ae1a646e CLINVAR:21342 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae10b3f6-b226-461f-b4b6-12ed90c89072 CLINVAR:40599 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b72c3cbf-1768-4545-ab33-25f3750eaab2 CLINVAR:40599 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5360d5d7-e1a9-40d0-a9cc-daa868bafbc6 CLINVAR:13326 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2f5234b-b46d-4a71-9032-78cc581fa0d4 CLINVAR:13326 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6c38308-29c9-4da2-b288-a8ca79d3c5d3 CLINVAR:177868 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f37f2787-be9d-4d3f-872c-5b902cf555d8 CLINVAR:177868 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c697b93-278e-4783-b883-4c5173f96793 CLINVAR:8274 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3c6c3c5-97b6-4601-bfc7-f123969c3180 CLINVAR:8274 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3a4539b-6342-414f-b84b-d953c7668d6e CLINVAR:8272 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5d3860e-7b6a-4509-aa5a-84823d178925 CLINVAR:8272 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a92b84-c537-406e-8ffe-7c06b032983d CLINVAR:8275 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b398e85-44ab-402b-b53c-aa1d110fe539 CLINVAR:8275 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eb9d249-1b9f-481b-ae91-1c6806c43913 CLINVAR:13350 biolink:associated_with_increased_likelihood_of MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14cc2e5c-b318-44ce-9e52-17dbe26e706a CLINVAR:13350 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 198eb30e-95e4-4f3e-a9b7-319bf32ffe09 CLINVAR:40781 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35c8e002-d4dd-4046-971b-877963571c8b CLINVAR:40781 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b54ff9e9-0b3b-40b7-90a3-fca2e27b3395 CLINVAR:40747 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b943211f-9a1d-4b71-ab37-cd858b0479e9 CLINVAR:40747 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea494c82-9558-4a9b-b779-ec76959a3cbd CLINVAR:13351 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee7d2a7e-8a54-4f45-9dec-bae6be5511af CLINVAR:13351 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21454048-c088-41ed-b508-6dfb21eeb48a CLINVAR:13979 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc9b5fd9-dc65-44f2-a63d-93303ce58475 CLINVAR:13979 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64dc576a-070b-45c5-a3b4-4f46f4a839cd CLINVAR:13965 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46e965ba-6658-4113-85fb-f0202d29e5f4 CLINVAR:13965 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d9a216-3995-4617-9b72-ecf22f333526 CLINVAR:13974 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b458e0c9-f4ba-4625-bb97-916b94c36b9c CLINVAR:13974 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2ce0480-a49f-4cf0-a281-55dc0d2d0c08 CLINVAR:40346 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37ce31ee-ad4a-4063-b640-d1f384b5e535 CLINVAR:40346 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba417a59-f58a-4568-9db2-b842382b01c8 CLINVAR:44588 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3f9a366-e97d-4b95-a709-09ab80e6a15f CLINVAR:44588 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e13ea93-f5c2-4219-9806-f637e69cd4fb CLINVAR:13973 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26875909-33f7-485a-ae1e-486bb1c1917e CLINVAR:13973 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1e2641b-d5e9-4a53-8cc6-e58ece31775f CLINVAR:599655 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ac85f72-b39c-4802-8a5b-90bfe8f223ae CLINVAR:599655 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f9ecb0-b5a3-4ae8-9ba5-b6c0f35f5e1e CLINVAR:418841 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67ca07bd-7abe-44c3-a6f4-7a0526ff425a CLINVAR:418841 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e938b83-fb6b-47ca-b100-8c773cd71e71 CLINVAR:140871 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad5f2a92-e282-4f81-a87d-c88d933d0475 CLINVAR:140871 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fcab802-e5d9-4c1c-90a7-e63573995ee0 CLINVAR:496233 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 475fd882-0cbe-48cc-a3ea-3a942d4362be CLINVAR:496233 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c6f3d45-ed2b-449b-84d2-adaf5b0d6593 CLINVAR:599651 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e98bc8d2-56b4-436f-a22e-790f8dfbad60 CLINVAR:599651 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 191b6f55-083e-4e98-9b5f-270fabe78933 CLINVAR:136055 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11614df3-bdf8-44c6-94d7-cfe6541d93c3 CLINVAR:136055 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d57d345-56fc-4ca3-9508-03bf7691a78e CLINVAR:463775 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 838a9c98-89fe-4d9b-a605-591f6b576d51 CLINVAR:463775 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82046236-a387-4f39-b357-c1aa1667072b CLINVAR:156496 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fc56df6-d29b-489f-ad31-f7d9184b541a CLINVAR:156496 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7647668f-69ae-4ffd-abfe-aa2a93534a54 CLINVAR:599653 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fb28a6a-1295-4683-8dd7-27b0be93787f CLINVAR:599653 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e07ead0c-04e9-4b54-a8de-834d57b48246 CLINVAR:599656 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60e42ea1-fc1d-422e-bed1-3b102149b9d3 CLINVAR:599656 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 420b0e7d-c448-4156-ae6f-d92d1a0a80be CLINVAR:239914 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 007fcb75-eb36-4c00-9af9-16d1b990db16 CLINVAR:239914 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 367e3877-8a03-44a5-a01f-894548cf16bb CLINVAR:599652 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba49c3d2-dd4a-4893-b7f9-50dcdb51343d CLINVAR:599652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5af1322b-89ef-4105-86c5-7e91b9c97fdf CLINVAR:156497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5993359d-7153-4af5-9f11-729380877ea5 CLINVAR:156497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4a77d15-70fa-4ee9-a8f8-0e35016f7703 CLINVAR:156499 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c84d882-02ee-4a09-b1ac-b973a37d130c CLINVAR:156499 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e3854a8-58be-4da1-9f42-a95f629fdd10 CLINVAR:449341 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9378839a-85b7-4194-b45f-8caf92901fa3 CLINVAR:449341 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b6a0d3f-e8bb-4843-b161-d1ab481f65e4 CLINVAR:599654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1954ae1b-be5f-4ff2-a0a1-79a4b3dad639 CLINVAR:599654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bee2bbb-97f2-472a-8905-46cae8d00ec1 CLINVAR:486824 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33eb3081-bbea-4df3-b0fb-4a78897dbcad CLINVAR:486824 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24e292ec-f4ff-4404-8988-ee510cb25603 CLINVAR:239913 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa7915dd-13db-409b-9404-92db062e5678 CLINVAR:239913 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f794544-8a33-414b-9563-946dd2a82fc0 CLINVAR:479504 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d3ae343-aeb7-4fd1-92ac-9fe068e86a3c CLINVAR:479504 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8add96c3-47f5-40b7-bca8-cbf738709c0b CLINVAR:479488 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f11cfa0d-7669-4d02-9f4e-357052e844c8 CLINVAR:479488 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aecfbbe7-e77e-4825-b828-79bf3ed58a70 CLINVAR:234554 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 148b9d1d-ad5c-4c95-9ee1-bc137299f4ac CLINVAR:234554 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 674138c5-1633-40d2-ae29-36e2b7e743ce CLINVAR:239906 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86cad292-f143-4594-9d31-7fe0c61bfd17 CLINVAR:239906 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 540e57f6-b83c-4f72-868b-dd9f9a1f3064 CLINVAR:483264 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 259f6bb0-5a23-4d16-8525-60289b9961fe CLINVAR:483264 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b82acad-581d-49d6-9497-dd9695f066a8 CLINVAR:12241 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96538eef-d7ba-4b01-82de-16763377e835 CLINVAR:12241 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bd7e2d4-843e-4e9a-ab8e-e2fba457e00f CLINVAR:231647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b98e447b-cde6-4e88-bd65-61fa24a197fe CLINVAR:231647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 652b4008-ce36-4490-85a0-9519e4d8deb4 CLINVAR:187464 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9faafa3d-8eef-488e-a7f7-57ef261138be CLINVAR:187464 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8051e453-2118-4f4d-a41e-e025d51fd565 CLINVAR:18453 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72001f21-2ef4-4e4b-89ab-391cd7321f74 CLINVAR:18453 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0be7c8a-159c-42e3-b46f-d7c87e4fb965 CLINVAR:406663 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45c6c2e7-c041-445d-bb00-27eb4c4495f2 CLINVAR:406663 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d94d7e-7603-4875-a40e-be124b9f9d55 CLINVAR:177763 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cfe69b7-a16e-45df-acbc-5f2014f1194d CLINVAR:177763 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a4eb5d5-0537-4e78-8248-891b0471c23f CLINVAR:7826 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe03f429-c637-4a7f-a7f3-7f98e9ffe124 CLINVAR:7826 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e45928c4-1064-4234-8bc0-cb97159b14c2 CLINVAR:185713 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b42aedbf-810e-48f9-a65e-df5a93b78469 CLINVAR:185713 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 337bf8cb-64ea-450c-beb4-eacc4610988a CLINVAR:7830 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f25b840c-8040-42e6-a8f2-494130a07795 CLINVAR:7830 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eef8176-27e0-4aa0-8080-db5b41195083 CLINVAR:7831 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3df50396-94a8-49e0-999d-92e7cd789a3c CLINVAR:7831 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fbb1d17-e522-45eb-bee3-331d686a9d2e CLINVAR:7828 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf702dd0-09b0-48e6-893e-ff58b6247705 CLINVAR:7828 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14a76aa8-71c9-4aaa-892f-d5783f15cfa9 CLINVAR:7823 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f375616-2d29-43bc-8978-183a66710a02 CLINVAR:7823 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435dec00-2e40-4675-b873-2a61563e781e CLINVAR:39668 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d089f418-6c97-4aff-889d-5571de0ef7bf CLINVAR:39668 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679239af-1115-4c17-bf39-999102399a8b CLINVAR:140807 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ecff75d-a9a7-4918-89d4-33834e6b3958 CLINVAR:140807 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ab4d3d2-e970-428d-a002-978cd2a4f04f CLINVAR:92820 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49711047-5805-4b14-ae2e-6d8a8349cdcf CLINVAR:92820 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8afa46f0-6068-4afe-9530-66a832903f15 CLINVAR:39669 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c690bacb-97d6-40ab-9b15-fc6a4be60021 CLINVAR:39669 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f087fdc-9a6e-48e6-bcf7-92c011b29378 CLINVAR:428271 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3829221f-f093-4105-a72e-63b9bc7a9999 CLINVAR:428271 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d98934-b158-4f64-a15e-82c538f2f5d6 CLINVAR:428274 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae462e14-d7ba-45c4-a603-8dc4c911ab13 CLINVAR:428274 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a233654-bac4-4e67-9575-cb1e96ec11aa CLINVAR:7841 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1554dff-e180-41b6-9b3c-b2fdcf0dda3c CLINVAR:7841 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b465030-2e03-4b5c-80b3-dcdb9003e339 CLINVAR:7849 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2819e056-07da-4a9c-a97f-e5e3e833f40e CLINVAR:7849 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 234c2493-83cf-478f-a886-cf94d9b6ba10 CLINVAR:7839 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b17b6a8-f3c7-4332-a9e7-e76a1a3d2b8d CLINVAR:7839 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d8ee139-a404-4211-9da3-98766cedd60e CLINVAR:7850 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 514d9233-53e8-444b-a550-9f2c728d999c CLINVAR:7850 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a24f7802-5f22-462e-8dbc-bfa953764c03 CLINVAR:7848 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3af229cb-1e09-4f8c-87f3-f89a219f86fc CLINVAR:7848 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cf893b7-1c38-48dc-9e13-fb78897fafcd CLINVAR:552907 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2568ca1f-993a-475f-9568-5353c02a446e CLINVAR:552907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2756d21e-3ba9-40e2-8063-823cb6a8e5fd CLINVAR:619167 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4df818e5-3db9-4e75-b3bc-72047b066fa6 CLINVAR:619167 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e09990-ee75-4801-ac42-be4d9dc14951 CLINVAR:102567 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 530ad1a3-c4c1-4156-9e63-851982730cc1 CLINVAR:102567 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 225f4e48-771b-43ab-af0d-c1424f98d7fe CLINVAR:551555 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d1d58bb-e11e-47b2-9a3d-5e45cb545912 CLINVAR:551555 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c307b9-6fd2-4260-946c-5da1ab2d6811 CLINVAR:102526 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91e55b05-d3e6-44fd-8ef4-c5dc3d6ce586 CLINVAR:102526 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aed1b5e-d1dd-4734-a56f-48737e25c450 CLINVAR:619161 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e7ae45a-7cc6-4ed4-b926-288d1b294872 CLINVAR:619161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c24947f-fe60-4198-ac2a-fb85d6c2e67e CLINVAR:102525 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84970279-b622-4a0d-920d-a1e9b10c3ac2 CLINVAR:102525 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 477401f5-6cd5-4047-a5dc-87fe03d0d812 CLINVAR:619153 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f279478d-39ab-48c8-8edb-b8f66aeb324b CLINVAR:619153 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebec8887-7a5d-40b8-a8d9-448d33429fec CLINVAR:102726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18be59a4-6ac3-4886-8bf4-e92a1f4dd2ea CLINVAR:102726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ce411c0-8853-4010-bb8d-ce4668eb3fbe CLINVAR:627 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 309b5869-b51d-4f78-a5a1-fb16a232d51c CLINVAR:627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ba7ac36-df2f-4eec-a93d-4652ad198975 CLINVAR:208180 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af55ec68-fbd9-4a05-9e41-b292724c21fb CLINVAR:208180 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9421171-c54b-49e8-81e0-1a24575b9e8a CLINVAR:225133 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen befbd545-2cec-4d81-9af7-7be8291959df CLINVAR:225133 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27f22e88-9e38-4ad9-8243-a8db3629293f CLINVAR:633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d72fa662-e2ee-4acf-a840-4ca802236e9d CLINVAR:633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b71c9411-f363-4b80-82d7-b0d446c5db90 CLINVAR:102905 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a598dba-3b23-47ce-bff6-a0a79bf62400 CLINVAR:102905 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff71910f-50f0-41e5-9655-3878c9722afa CLINVAR:619151 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9950bcf-ba04-486b-b895-c283ae009c77 CLINVAR:619151 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73426b45-e28e-4263-840c-9db269418644 CLINVAR:619162 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77faf91d-61e4-4c18-8ff7-922012a74bdb CLINVAR:619162 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d9f0bcb-c868-47ab-b50f-2d4dda4a4f69 CLINVAR:619155 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bdd9de8-64ef-4855-8ff9-13c205b07ab6 CLINVAR:619155 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 235ddf0d-258f-482b-b21c-18e4626de122 CLINVAR:619157 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16b6f2f7-9f6e-4a99-8e51-c768bbf7e7b0 CLINVAR:619157 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d4d8ee2-54ea-4ff7-b679-2b314fe38b1c CLINVAR:102882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52d2d51d-973a-4ec0-95f6-eb099c968123 CLINVAR:102882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd2b8f1a-8602-4bed-a27b-6f6a66d6f3fa CLINVAR:102881 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cb6e9dd-5b15-4f19-aa11-e23a95a083cf CLINVAR:102881 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 584aeae5-be90-46d1-a6ad-d71cec2765bd CLINVAR:619164 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee576354-55a9-40ab-9ddb-6a15f2a44247 CLINVAR:619164 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9389b645-74dc-4e66-be98-f36090efe4da CLINVAR:102880 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bceb466a-a9db-490f-8a86-e57d5637d390 CLINVAR:102880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b04e61-fc25-47b9-8f0f-ea73bee5e79f CLINVAR:102877 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91636820-fc9f-4d7a-b901-becc6e750b0f CLINVAR:102877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a10cb190-6d53-494d-b0e8-5574b22918b9 CLINVAR:619158 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9251d8d5-bb29-4ee7-8891-00181bd98e2f CLINVAR:619158 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63c4dae-170a-4497-a66a-b72058c1d4fc CLINVAR:619149 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab957ac4-1d60-43cb-b2e6-72534641a2e3 CLINVAR:619149 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e2ba69b-53f9-46d8-8ea3-8f8451d5c3e5 CLINVAR:619154 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0d17397-17dd-49ef-aa5e-0cd832f9181a CLINVAR:619154 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8c62a43-9875-4c94-8a71-66cdb0ba21de CLINVAR:120279 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fc1164d-ea1f-49bb-a3cf-3386a71d9d68 CLINVAR:120279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11444739-212b-47ae-9a57-9d98d4021f2e CLINVAR:102694 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4112d2d-1ddc-43a7-9a41-89efcf55ae68 CLINVAR:102694 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e8c59c7-853c-4e57-b202-33beeb5f8249 CLINVAR:102667 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27dd8ffe-99fb-4f20-af13-f48c875ae947 CLINVAR:102667 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 637dee09-a352-43f6-b2fd-97a78e545153 CLINVAR:102658 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37775637-8ee8-4685-9e2b-a4b0eb4cd41a CLINVAR:102658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b4f5c3-7552-4d63-87e3-c5aa7063c2cd CLINVAR:102620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 697a262f-e9bb-4d8a-b404-069d4167fbf6 CLINVAR:102620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f533cab-85f8-42a0-963f-80ffe94e9419 CLINVAR:102619 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6371e27c-7e2b-452b-8c14-8036db77fd05 CLINVAR:102619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c73db400-7d92-4481-9f89-4521c67c2a9c CLINVAR:102616 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fa76c1b-152d-4ff8-8339-217911d36d12 CLINVAR:102616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601449a6-975e-4242-83e1-58f60565bdc9 CLINVAR:120266 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a42ef71-cfe6-42e0-bf23-57b7ea06af82 CLINVAR:120266 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5f46b2e-8cb3-4325-97fe-24e0b1b84ed3 CLINVAR:619156 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47b2d748-1d16-434d-86c4-3aff5db01682 CLINVAR:619156 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fc0f26b-1291-4906-a336-55541d98365e CLINVAR:619148 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb114b91-2798-4e32-823d-6e841512ee06 CLINVAR:619148 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bdec2f0-4fca-44c3-bdee-6ee46aa393b2 CLINVAR:619152 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8373ed84-75b7-4cc9-aef8-88740c9e0263 CLINVAR:619152 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51369d2a-ecea-43be-8184-a67e2ed1c1fc CLINVAR:102850 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f58db7c-37f0-4516-8be5-6b585912d267 CLINVAR:102850 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 589ae187-897f-40d5-91fc-5fc6789278b7 CLINVAR:102849 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61a44fa9-0c7f-4ae2-8f22-6fdef4b45cbf CLINVAR:102849 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ceae54-5fda-4e30-8975-09e31dd94e91 CLINVAR:102623 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 110a7343-864f-4e8e-bf25-b48bf33e5360 CLINVAR:102623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccbf71c1-c452-41e4-adbd-5d173cda8e28 CLINVAR:102817 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bd37af9-deec-42f5-966b-4b7ce8a5c92c CLINVAR:102817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27f9ba5c-52df-4df9-9297-7c441d6e5027 CLINVAR:102816 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7998501a-faf7-409a-8ffe-762f25654bbb CLINVAR:102816 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22a0e3b5-1782-46de-aa92-9da55c17fa1f CLINVAR:102815 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen acdac247-b3b7-49c4-85fa-9811da0844b2 CLINVAR:102815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f581cfd-61b3-40b7-a44a-e4e9f5bf9782 CLINVAR:619163 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3fc5073-71d9-4d41-99e8-4db44aaed711 CLINVAR:619163 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc46db37-7b8a-46e1-bdf5-093a97f5f6e5 CLINVAR:619160 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78d8884f-531c-44a8-81ca-0c51aca05bec CLINVAR:619160 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a43f68d0-2860-47d4-8df7-bcdad28592ca CLINVAR:619166 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e783d53-0a3e-4b6c-93ee-f9c6d025512b CLINVAR:619166 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdb67c95-dd2f-4af9-a0f8-28c2086e62c2 CLINVAR:102772 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7dab14b-fca1-44d1-9c5d-0252a8f6b47b CLINVAR:102772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a42da80-ad21-415c-91ca-6cd503f8cfa5 CLINVAR:619165 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54e0472a-cd37-4541-8827-c8c3d1c44f1c CLINVAR:619165 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14305936-3545-47bf-ac40-f33d05b37e33 CLINVAR:556296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9928fde0-55d2-4101-aae2-e81a6c0b82b6 CLINVAR:556296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 722820cc-5fda-4dce-a4a8-58201507a95c CLINVAR:102841 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e73c474-8166-485f-940f-151a9a7b2162 CLINVAR:102841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fac42ae-3de6-480d-81a1-24321ffcacf2 CLINVAR:102840 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c4f5eb4-615e-4f1c-99d7-cdc623fc6322 CLINVAR:102840 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bced6fd-edbf-4331-9946-559044bf98fa CLINVAR:102839 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5c70ced-cae1-4d59-b579-0ea5ae287042 CLINVAR:102839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc24eecf-42e2-44dd-98ad-de2dc634bde2 CLINVAR:370701 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e800ddc4-599f-4fd2-81d3-6139e449b1cf CLINVAR:370701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b7a340c-d00a-4c85-a7c5-bcf171ddce85 CLINVAR:120258 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad2e1500-7e0b-4e40-9f02-6b8e3e33c39f CLINVAR:120258 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b316833c-b427-4667-a8d8-ff08ed969ef4 CLINVAR:102767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b9314c6-a3eb-4194-b80c-18f266ce02ec CLINVAR:102767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee0703c0-a9d1-42da-8af8-00d6f2a4361a CLINVAR:102604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82de8b2b-b0f7-4f73-947a-2fc411a64c23 CLINVAR:102604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ab76da-aa8a-4a39-8a4e-9e257ce1469d CLINVAR:102588 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b87b751-7960-4792-b306-b57a151c9b64 CLINVAR:102588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd1d103-cdd4-44e0-bae6-92ca3ad77977 CLINVAR:102857 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44614fdd-6555-427e-be0a-40c198e4e2a7 CLINVAR:102857 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d3d4af-c7ee-4e08-9cdc-622744aaf8dd CLINVAR:102856 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 351a860a-1abc-4a12-83a6-ce40d1e881ba CLINVAR:102856 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21ef3571-62c2-4ae4-8bc9-f31ac618772c CLINVAR:102854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12b749b7-151a-4e43-9fde-7631b9334b4f CLINVAR:102854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff653627-4f6b-4ca1-8d41-904282d20671 CLINVAR:102853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2a4124a-3be2-477a-80fd-78d820981470 CLINVAR:102853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen facc0de4-4eef-4e0e-a4db-06bbecdfbbdc CLINVAR:120286 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ebeb7c46-8f93-498a-a151-83b7bb8bb581 CLINVAR:120286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 209821cb-026e-453c-a61b-2094546e0aaf CLINVAR:619150 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d77bf507-9f8c-4739-86f8-37d3e0790556 CLINVAR:619150 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2d2ed1e-7234-416a-b233-faae2bc03586 CLINVAR:102833 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69029c3f-7102-425e-918e-3660fdd7a5f2 CLINVAR:102833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d22291cd-845b-4f41-a58d-f91d2447ce20 CLINVAR:120285 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a167b507-793d-4135-bd1b-b46eed3e10b8 CLINVAR:120285 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d59dcee-9ebb-40aa-b761-0144916d1390 CLINVAR:619159 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 395df489-2bbb-4ef5-9440-b34e9f6c38af CLINVAR:619159 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ad10b4d-cb15-4bbc-9aae-63ef5525e39e CLINVAR:587 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dded69e2-097a-447e-acf5-c0ce3ffebc22 CLINVAR:587 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 709c1381-9e22-4654-8e2e-cc3a834b0814 CLINVAR:102842 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33b23f7e-c9a4-4dca-a187-dc471ba2f315 CLINVAR:102842 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2df1547b-02de-4ecb-93cc-64c0dce9ca51 CLINVAR:102823 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a049288-92fb-4573-9bc1-cbebe830edc6 CLINVAR:102823 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feddc6d3-85cf-4b70-9308-53de3ad1f133 CLINVAR:589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00974cad-b49d-4344-b6b6-4b658802b3bc CLINVAR:589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afb7a98c-c0bb-4b83-9ae5-86829fb561dd CLINVAR:92749 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6b45267-a74f-43ed-9fa0-2c5dbb6828c6 CLINVAR:92749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21ee4b9f-986d-4697-be8c-6d00c6826d5b CLINVAR:46014 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b9b69f5-a923-483e-9cc4-9b0cc7fc4dd0 CLINVAR:46014 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbebf441-15c5-41c4-99e3-99d4aa97f832 CLINVAR:6611 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50ab0273-d965-4545-b010-8ded10378e69 CLINVAR:6611 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a67db53a-482d-45e8-9bc2-699940cf113d CLINVAR:447450 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36ab2b69-01bb-49f6-9589-cf242f2d4efd CLINVAR:447450 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ecfecc8-d4ee-421a-a045-67c0491a1e5b CLINVAR:555720 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76e0a7d6-b762-46b1-a057-ee3df8ddfc70 CLINVAR:555720 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c02a8cb8-bcc4-4189-9ec1-4a9dc15f1394 CLINVAR:17002 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea68e717-5ad2-4bb0-8274-448ae4f7ea4a CLINVAR:17002 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a4c9bd-5043-4b3a-b6f7-e83a70ad6975 CLINVAR:4840 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57e21643-18aa-4807-bd53-7fd96cb29c21 CLINVAR:4840 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ae33795-ac98-46c0-bff5-e60f8093b4d8 CLINVAR:17010 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2dfbb2bf-44ae-450e-b35e-b7fb125f7db7 CLINVAR:17010 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd59365e-0aef-4fcd-8e2b-4d685d39b414 CLINVAR:375406 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64d68b55-8099-44e5-9d3c-ca8453566489 CLINVAR:375406 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a22888d2-8cfd-4fce-b85d-b313a780ed8b CLINVAR:43555 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87441f47-0b73-4394-8cea-0ae6488fcb46 CLINVAR:43555 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5192a4a-f445-43d3-b053-d951571cb1b6 CLINVAR:48535 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd51bf76-b862-4bf1-8fba-99626645c1b4 CLINVAR:48535 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 986f08bb-0fdf-4089-af4c-d48b0633df1f CLINVAR:6241 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71378c66-d1f0-4697-adf9-808ce2026dfc CLINVAR:6241 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f75c9ad-8bd3-48a9-b021-fca614e916b0 CLINVAR:43498 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b11b7dcc-d787-498b-895b-fcaeadcb5532 CLINVAR:43498 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9db6de93-6e22-40b5-93d3-bcece916d60a CLINVAR:4835 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24015153-5295-4f86-ba27-999f85dd3752 CLINVAR:4835 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8a58875-a143-477a-b7f8-5de78205f9e9 CLINVAR:166504 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fccadd0-997d-4df9-8cca-3634dc3e65fd CLINVAR:166504 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de81e6ec-84eb-434f-bca4-ff5678af3eeb CLINVAR:2353 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 961a20ec-f263-420a-9246-fa7b47a0b876 CLINVAR:2353 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f956466a-a3a4-4c25-8306-dee17d4356e5 CLINVAR:48604 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a808a8a-78fb-44ce-af2c-c4c43cd506ca CLINVAR:48604 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1568fdcf-1f9c-46bd-ad0c-0c45282acdc2 CLINVAR:43565 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d07ac49-69dc-4822-8f09-f8c7bd464488 CLINVAR:43565 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f1817dd-f592-4f4b-8d63-f0d97f3fe9e5 CLINVAR:48347 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79bc736c-4e42-4ffd-983b-4323e85d7dbf CLINVAR:48347 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d8e307c-2d70-42bb-81fa-88ad8dbb570e CLINVAR:197510 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09f1b1cc-a9ac-4262-b790-2b4825beeeee CLINVAR:197510 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a7e317d-2929-42d8-bf32-bcd17c8daff6 CLINVAR:189148 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f339eef6-1c21-44fc-9bc6-170f77479ea3 CLINVAR:189148 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1feb0a4b-d3b0-4300-b47f-8bd9b9342016 CLINVAR:449088 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 183f0299-259f-47bc-af8a-8360fc445870 CLINVAR:449088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e8306b-61f0-40df-bcbb-f0b0d8026650 CLINVAR:102661 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 832017c7-b353-40da-a66b-6fd29c6d5651 CLINVAR:102661 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5602ae3f-bf65-42e5-9287-b087d539e146 CLINVAR:102858 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2aef1029-99f6-46dc-9935-46aa717dbcea CLINVAR:102858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9614adb7-09c2-409b-95ce-997a83d2d02e CAID:CA16020876 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f897b593-2f53-4b7d-bd62-a9eb4c735279 CAID:CA16020876 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 312b58f8-e64f-4f97-a35d-a1b44db46c1e CLINVAR:102889 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5491ffc1-7c13-44a1-bea2-05760de234ad CLINVAR:102889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e69f7b7-d39c-4510-b661-ffbde6c4f058 CLINVAR:102584 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a97eaa2-90a1-4de7-a6ff-ee80c7e0b337 CLINVAR:102584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f9a68ad-f5f8-4bf1-9f45-e76c468313d2 CLINVAR:120274 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8532f0c1-808f-46d1-b6aa-8f12cf15ed2e CLINVAR:120274 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41bea13a-9638-4946-b54e-694ce380e9e3 CLINVAR:102689 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecb61b36-5409-47a6-b88c-ae2b5360162c CLINVAR:102689 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 153fd3c0-1c99-44e2-b5db-d42cecca16e5 CAID:CA16020719 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9241ad3-e9a6-4c0d-88ed-e10afd34ea75 CAID:CA16020719 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4788bc86-2a27-4777-9076-c009a810e84f CLINVAR:557124 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aacc0595-8540-454b-a0e4-10133f08cec1 CLINVAR:557124 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51cedfb9-7d38-4cf8-a11a-0c49ae82b9d3 CLINVAR:102744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0da10f3-906a-4885-a42f-34173fbca8ea CLINVAR:102744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 387c925c-e19d-4053-beb6-2c6c0978d188 CLINVAR:102581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d71f2b8-4f12-44c5-9b8e-3efd55c8d8c7 CLINVAR:102581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f65b9f5c-eecd-4cb2-84ff-73f056f28561 CLINVAR:102660 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d6efdc9-454c-46b3-a615-8d237122399d CLINVAR:102660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a70b3921-6899-448e-90e8-27004b16d5c4 CLINVAR:102686 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 439e4e70-472a-4375-8e18-ae6ea340920b CLINVAR:102686 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32b8224b-d954-4ac0-842f-5375f8400960 CLINVAR:102700 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aeb7e423-081d-41ca-85ed-7bcf11370aa5 CLINVAR:102700 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de324869-f26d-48fe-b089-51058eb3b182 CLINVAR:102701 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdc7f4f8-1487-4273-bf5a-6e0c2383d814 CLINVAR:102701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddd4e6f0-8721-414c-b07d-8acee7a7fe91 CAID:CA16020800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7d7527b-2fe6-4f58-be57-491f71c4ea87 CAID:CA16020800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62c699bd-7718-4dd4-acd4-9f74533b145b CLINVAR:102702 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2077fc5-88b2-45d4-85ba-6b798e254204 CLINVAR:102702 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1231035-2e60-4597-afc3-a6a1da6d704c CLINVAR:102721 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d1942e1-a78d-408e-b137-8bf683d4f78f CLINVAR:102721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25c2e6c6-60ca-41a7-85a0-98c241b303ea CLINVAR:555366 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f48edfd0-7e4e-4e50-8b02-eab2737568b7 CLINVAR:555366 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da97c08f-be2a-4cc5-a074-b891aca6da3f CLINVAR:608 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afa78043-0328-45e6-87ee-556dcbc7ffbf CLINVAR:608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b5c7942-456f-4afb-8f18-d2e6120d0257 CAID:CA16020761 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b97265e-38f9-4092-884f-7b16cbf6198e CAID:CA16020761 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3baac363-4986-4fd3-89d9-283eea2f0fba CLINVAR:102873 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6ea892b-03e6-4be8-8427-73ad67e54fb1 CLINVAR:102873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 126cd0be-5ca5-4242-91f7-973055607498 CLINVAR:102869 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98432bc3-06eb-4e1b-ac75-d4832e91c6c2 CLINVAR:102869 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4b3137d-faaa-4193-b9b0-537071ca74c9 CLINVAR:102670 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fef85914-90e1-4e63-b420-822d034d05ef CLINVAR:102670 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e8e69e7-a808-44c3-8635-6dac34114aa0 CLINVAR:102735 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fab6d4e-e174-4417-974d-d79b7e3d1f1c CLINVAR:102735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 291af54f-f619-4964-b501-b5677fc474f2 CLINVAR:120280 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96e0f72c-47e4-46b6-a8ad-3fcbda0b657f CLINVAR:120280 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5ce9ff7-803b-4801-9853-8cc7db9ecb22 CLINVAR:133314 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 789ad77e-ccbf-4a92-8245-7b40155834db CLINVAR:133314 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7166110-cafd-4eb6-a4be-81f9cc33f6fc CLINVAR:597 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86a269c9-1468-449c-83ad-e4506febba80 CLINVAR:597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79ee9879-94d4-4bf4-bc53-4fd088ada431 CLINVAR:120265 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83d0854d-8d9b-4e9c-8249-9f53f8a0405f CLINVAR:120265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feaef6c3-cb45-4893-b640-91c9099ec6bf CLINVAR:102605 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce793dd5-c469-40cb-ad79-79432ed66b27 CLINVAR:102605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a28d58f1-d545-46ce-b32f-8d506a8a67f8 CLINVAR:120270 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83ffe27e-e998-44df-ac35-ccb39f2e506f CLINVAR:120270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6803bb84-0896-4284-9826-5518c77db006 CLINVAR:120277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1db66e2e-eeef-42ee-bdfe-60c7891ea078 CLINVAR:120277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a605d39e-405a-4efb-94c4-b11cbe98c4cc CAID:CA16020871 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 584b34e8-3ca6-4c39-b7d3-cd0b9a77d054 CAID:CA16020871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d3a125b-d5d9-4afa-84d6-403257474385 CLINVAR:208182 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac448bcd-b42d-4888-8e74-69b31974a23e CLINVAR:208182 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c58a33fe-b28a-4e4d-933b-25b9f7290a47 CLINVAR:40447 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6948d5a-d1b1-4fe3-8b19-c6777c966707 CLINVAR:40447 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32563c05-3a61-4431-b7d0-88bc6c268088 CLINVAR:40347 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 635b06b3-4331-40a5-9602-1cf32ade9a62 CLINVAR:40347 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen babea689-f3f7-4fd9-9a33-8a8ac5773f1d CLINVAR:40348 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68f2e77d-5372-4eda-a9d2-49350659e7f8 CLINVAR:40348 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5089a0ce-ac54-42fe-b826-567c85552449 CAID:CA281951 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89ae19bf-998f-4d7e-a7a1-4337b6036ec6 CAID:CA281951 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63c23602-b3b3-435d-a056-26803e3c7c6e CLINVAR:180784 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d81edb19-a1f6-44fa-98f4-dd48edec224d CLINVAR:180784 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9917a3a2-35ec-4c52-89d7-60d99efef2e0 CLINVAR:55793 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd191706-01a2-4f54-9229-fa8059cc7961 CLINVAR:55793 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83164afd-05c4-47ff-bb44-688b68c16bf0 CLINVAR:44830 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9e0727e-39ff-462e-8018-9147db5d40fb CLINVAR:44830 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31df6a08-2fc4-452d-aac8-e866980ba6f6 CLINVAR:477669 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd630993-6114-49f1-96d3-397a19ade9a1 CLINVAR:477669 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b892b44-83ab-46e0-a57b-67f8d656b532 CLINVAR:40485 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e23b1ac-9087-4d76-be81-13d166bbbabc CLINVAR:40485 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d521f60-3a6f-4e4c-8cd5-d2b3193e79f3 CLINVAR:543999 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e683db6c-d384-4f45-bf6f-22707f642e89 CLINVAR:543999 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0a8fce9-5116-4f44-8d05-65e685db2b19 CLINVAR:40818 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5899c9a5-0cde-4085-b71c-35d5b91f060f CLINVAR:40818 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df7f11e7-c130-499d-9100-113dac5cb020 CLINVAR:40562 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed42c96d-99c0-443f-b9eb-7dc3da5a551c CLINVAR:40562 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aff49c22-fe34-4772-a1b4-9ec49cc8a998 CLINVAR:40513 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36a1523c-6c61-4ede-8ef3-7d3d680c20b2 CLINVAR:40513 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae7ffcce-dfa8-42f5-b1dc-be2399262193 CLINVAR:17000 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6aec36e-a6ca-44a5-a7b5-7ce61c0bad8d CLINVAR:17000 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5634153-f8fb-4b70-a1a9-3e0421d5c0ed CLINVAR:203873 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d96827b-7379-45ae-9746-29e081062bee CLINVAR:203873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d50bfa1a-c2ad-492f-8962-7561a0bdc5d5 CLINVAR:585206 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4140408-c409-4086-8abc-395dde4f29d5 CLINVAR:585206 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83865a38-5056-42d4-ac35-31eaaa53bc71 CLINVAR:102626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 043a751b-5fb6-443e-8660-a40143d3c385 CLINVAR:102626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd50f792-341b-4d33-b757-a90608d76349 CLINVAR:102647 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c59ad1e-e8e9-4c86-aec8-97e2840b0a3f CLINVAR:102647 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7e88667-29f3-4e9e-b893-8430eedf0b8d CAID:CA16020886 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47c4629d-b893-4d26-b8db-a7c40c6f3d1d CAID:CA16020886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e159557-c70c-4ae5-a1a4-511daa405642 CLINVAR:92750 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b004e86-4937-48fe-890e-c05039d4f80b CLINVAR:92750 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a901b795-9b70-4c79-ba16-f8a88692dd89 CLINVAR:102885 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32025756-b5b6-43c6-a383-c990f3cdf316 CLINVAR:102885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecbf178e-0fc3-45d7-9956-f6e5ae4e4911 CLINVAR:120291 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffbae816-a684-44c4-988b-2e34a78fe8cf CLINVAR:120291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b77bd1d-84be-45f0-ae46-f97ca74a6a15 CAID:CA16020885 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ce672a9-3d41-4f5b-bfad-abcfae60e750 CAID:CA16020885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9a70082-6e70-4b4b-964f-2636140d3425 CLINVAR:120297 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e92725dc-ed8b-44a1-a6cb-c8b303ddec70 CLINVAR:120297 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 726b8611-906c-465a-b471-3292cd9f858a CLINVAR:120288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb1b93d5-0589-4bb2-b21b-6862016e8787 CLINVAR:120288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a26cf39-7ef4-4374-8602-17b9154ca254 CLINVAR:637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d14f340-6af2-40f6-b9ca-bab5f5cbf245 CLINVAR:637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d5bef70-0b44-4090-910a-19d83e717bfc CLINVAR:102884 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 939cabfe-d15e-40de-9f43-dadeee08a2db CLINVAR:102884 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef39c3f5-c2da-4793-b53c-8c8d2d8f5bed CAID:CA16020846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6d83e61-5fcb-452e-a8bd-1a4e59b56e87 CAID:CA16020846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 632af791-633c-43a0-b9ab-71c5a6987fac CLINVAR:102886 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf06e023-f8a9-4c80-94b9-4cd5da362f4a CLINVAR:102886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 907527a6-7e73-4fbe-ae0a-76fa5e6991ef CAID:CA16020889 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56065f41-7842-4980-96f4-7e4bb5113d81 CAID:CA16020889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e5e1f66-e907-41b1-a93f-624af6640ad2 CAID:CA346365197 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 856987b4-9b7d-44ac-a478-b0d1d33949d2 CAID:CA346365197 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d950acd-ad0d-432c-abe5-ffa3ce01e285 CAID:CA891862608 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8762e5c1-8651-4a6a-ac4b-8bc5f5965967 CAID:CA891862608 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63cf1a67-7e1f-47db-9e08-13aff4941ff9 CLINVAR:45373 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51879a89-7ba4-4b75-9a2e-1c9e0db9cb38 CLINVAR:45373 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3806a242-c5fd-470b-a204-8e59e1d349f5 CLINVAR:8273 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71beb348-188e-4e86-a516-9bec22833e8b CLINVAR:8273 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffd8bbbd-1abb-43bc-bfb3-fc89cde10b40 CLINVAR:13331 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 091b3f35-b2f9-4b40-9ced-2f26c299c4ff CLINVAR:13331 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f1dc1a4-df01-45e5-bab6-7bf9ad9d2df5 CLINVAR:13333 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1794b073-2499-4a5d-8165-c4e4915e2638 CLINVAR:13333 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 815490dd-5b04-43ed-95d6-296edb050da7 CLINVAR:158604 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55c95764-26e4-4418-ad4c-ff00adaef8a7 CLINVAR:158604 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7199257c-2a86-4286-993a-5bf34d2d1035 CLINVAR:162956 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6682d9b-5dbe-422e-b738-09ef65cb5cc0 CLINVAR:162956 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4374aedb-17d7-47bd-968a-31466ed0a2ee CLINVAR:177732 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b98fc26b-3bcc-4313-bc72-4f63f2857177 CLINVAR:177732 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc193646-3b4d-4cac-85f9-8f1bf594b148 CLINVAR:44760 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77dc047f-4c1f-4815-841a-10cad6638879 CLINVAR:44760 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e155d39-dd1d-4a5f-a517-ad6bd175eb20 CLINVAR:4838 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5919989a-62d0-414d-b41b-5ec9e3fcab25 CLINVAR:4838 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92cf4c4e-16e9-4824-b2a2-f5ee5b14b850 CLINVAR:17023 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52a6fbf7-1681-4c69-8061-20c11d406f40 CLINVAR:17023 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b109e61a-fd39-4943-8652-68e6aa00fcad CLINVAR:120260 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 189aaff7-65df-4e98-b6ca-6773ba39a083 CLINVAR:120260 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01c8e51e-fbbb-423c-83fb-ca59ab0c1ec2 CLINVAR:7817 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58d4ca21-4571-4b7b-b478-4651862cd2b7 CLINVAR:7817 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06ad173f-bf53-41dd-9d79-e3e6c1b93be3 CLINVAR:223142 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd03625d-5162-4af2-a97e-67582142f455 CLINVAR:223142 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 547c662d-c584-46ee-8cb3-1fb5b841ecf1 CLINVAR:375958 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c4ffb0a-777c-4f8a-ad1b-6625c639d670 CLINVAR:375958 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e5e73f7-985e-4d69-a595-141af2a2b416 CLINVAR:375959 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 143e61c1-c597-4c59-b42c-210340aab045 CLINVAR:375959 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1865ea1f-5f64-430e-b0d8-d6d12fa70923 CLINVAR:189403 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d778f3f-7ed8-4698-8d81-843a4adacb05 CLINVAR:189403 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69f8d2e4-375d-43c9-b115-8e445a25a5ae CLINVAR:187827 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 340d5290-9270-464f-85e2-ef75196ff03c CLINVAR:187827 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f393e565-cb42-4e21-8e1a-d7fe7e848229 CLINVAR:142212 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e1fbc09-93e3-413a-9016-12659e443f71 CLINVAR:142212 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 993288e2-ba0d-49f5-b637-659fc285cf42 CLINVAR:237639 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5c8c371-f4b6-4b66-8b8a-6365075392fe CLINVAR:237639 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f10544-147f-4ca2-834f-4882b77be5df CLINVAR:184466 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdc6eed5-2ea4-4ac8-91b5-8e3d868daf92 CLINVAR:184466 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10123462-0d46-4767-ae64-9bfc84c501e3 CLINVAR:427623 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a83663a5-478e-48df-9729-ba548ff7625b CLINVAR:427623 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12fa9638-c0b4-4fac-824f-59d3d46586f4 CLINVAR:372481 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25dc85bc-9fb6-474d-81e2-d65ae8f4f450 CLINVAR:372481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa8514b-1db0-4562-8a3e-3b15c48bc4c7 CLINVAR:372482 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a69eb8e2-80df-4547-bfe6-72c3ad565a8c CLINVAR:372482 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 800929f4-0fa6-4fce-aa8f-90687289ded9 CLINVAR:184844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ef133c9-4600-471d-ad0e-b1dfe076e53a CLINVAR:184844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b50d92a8-8ce6-46c8-82b5-9ce56caa8de6 CLINVAR:376510 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc64736f-7f85-4bf2-a2a9-596974129556 CLINVAR:376510 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69240a30-90a1-405e-9761-8cb3ed02b9ef CLINVAR:139567 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f45daff-ee49-485c-9ea4-70517f1cad22 CLINVAR:139567 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7daebf90-3e92-4b77-be02-8515955fad17 CLINVAR:237643 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11503820-2461-4c30-ba55-c66533ba45ee CLINVAR:237643 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cdc73ab-8d86-43f9-a450-6ba794a4ddc4 CLINVAR:7843 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67224edd-c688-44d0-8d0d-ae851a07abf8 CLINVAR:7843 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 791a179d-3932-47e5-a446-537d23267144 CLINVAR:428216 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d220582-09a7-4e3d-bb2d-33f4ed1d8c7a CLINVAR:428216 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6871cc1-0b76-4f93-a2af-9a9abe104f30 CLINVAR:7845 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d30452f-9ad5-45c2-9dd5-a66407e5ee02 CLINVAR:7845 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1529eb1-3d0d-4863-953b-301b07a8e596 CLINVAR:428206 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3fe095be-ed66-4a45-9e1d-306c0303d677 CLINVAR:428206 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c64e053-b4a2-4b08-90be-c73de10a7abd CLINVAR:7825 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0688d90f-1b29-46c4-883e-444a7513282a CLINVAR:7825 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed4e453d-38bf-470c-a160-4a413c591d2d CLINVAR:7821 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14a57e7e-6681-4d88-b7b2-f21fe494a3d0 CLINVAR:7821 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ffe78a-0f5e-435e-ae4a-8564a87ec3a3 CLINVAR:7822 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aaf4dccc-15b8-4547-97f0-a7704b09ae98 CLINVAR:7822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 528082d8-157e-4052-b948-674bd0b5704a CLINVAR:7840 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f4836a8-ab25-46c4-b588-791d752b1498 CLINVAR:7840 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92a4ba6a-56a7-4322-8916-b05bd65c2758 CLINVAR:186427 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c45879a5-5aaf-4f8c-87e4-aa500fbc4382 CLINVAR:186427 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 827ea257-70c1-4f60-b57b-6fe8de730430 CLINVAR:142261 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7afca759-94f9-4cc7-875c-3af88f02efe7 CLINVAR:142261 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad81915e-0e15-45f8-81d4-fe4c6c2535d0 CLINVAR:186161 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb35298e-0e02-49be-a94a-e780d7a8f9d2 CLINVAR:186161 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec5d753-4284-4d90-8b4a-de8f2c33cff0 CLINVAR:184878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 143e9d54-3cd4-45cb-bd88-3f17e07a3cb8 CLINVAR:184878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91ed35c6-0346-49d9-a922-aa87a9c9f7c1 CLINVAR:127696 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50b626e6-cc80-4462-ab05-5106ae40751e CLINVAR:127696 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40e28afb-0ebe-4b69-9020-6d8d795ea8e9 CLINVAR:45304 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14f10969-3990-422b-b5bf-45eac2f4a504 CLINVAR:45304 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b126328-aaa7-4541-8ed2-b29d6dfc89c0 CAID:CA16020890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6e86d4b-52ea-4886-8dd9-eb1c9b790fc8 CAID:CA16020890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5abd5abc-74a0-4169-a633-a386498631c7 CLINVAR:376018 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92671b65-d22c-40f7-904d-df6cb38d6ca0 CLINVAR:376018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e8a412f-d7d7-4b71-a4ed-7b99f30aa35c CLINVAR:545522 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa5374d2-dfcd-4dd7-9c40-f77a57d5020a CLINVAR:545522 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 421aa179-23c7-443e-a10a-9525606f398e CLINVAR:14467 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2193f3d0-ff8a-488f-ad09-89e55cf30b20 CLINVAR:14467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f4f4d4e-c804-4ff0-94ff-b2551c7463b9 CLINVAR:561222 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40339830-b6cc-4a0d-853a-4a941207ab80 CLINVAR:561222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26b82798-587a-4335-8a21-bd584cccec56 CLINVAR:14465 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0220a12-54da-4904-9e98-d9a669f7f2b9 CLINVAR:14465 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 319b630e-0a33-490d-a115-d6084dfd7dfd CLINVAR:429813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d924111f-4868-4b88-9ab6-5b8553d6458f CLINVAR:429813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce90c36a-ff2f-4f73-baf9-56d1ec6fa239 CLINVAR:14468 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 069a142d-d54f-476c-86b8-a44ceb36bd56 CLINVAR:14468 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b52727bc-1633-4633-915c-692704e587bb CLINVAR:14471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea92133c-c102-4bb4-8d85-752d6232fc45 CLINVAR:14471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2559cfc-90c9-4cb7-98f8-a6a9bf3f0fb7 CLINVAR:417961 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a36246f-e847-4e0e-9215-ade968dbd993 CLINVAR:417961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b88099d-821c-4824-a4e2-5a68a62a7fd7 CLINVAR:212089 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48984f87-182a-48ec-a1ce-32dcb72551aa CLINVAR:212089 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b141410-4df2-4d4d-b0f4-bf179041ec66 CLINVAR:14464 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3e5b034-3462-42ea-910a-02cea3f80eed CLINVAR:14464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de78736d-a6bd-445c-a717-4080a9902f5f CLINVAR:666273 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7825b25f-984d-4145-9170-21be3d3d81ef CLINVAR:666273 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43ecf8ae-0832-4bdb-8500-41610dde0172 CLINVAR:463988 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eab2e672-db2b-4ebb-bc59-cd3dd1b2dcc5 CLINVAR:463988 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a6f56b-1cd5-423b-8757-b0f5c43b8790 CLINVAR:14470 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2b3461c-5366-4bec-af42-619b19c3adcf CLINVAR:14470 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96fec718-05b8-4811-9197-0bb9055129dd CLINVAR:436616 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eeb7ea3c-b80f-4e43-8d28-ba4e81a78cae CLINVAR:436616 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ea6b26c-46d2-4a59-9e33-f03396f74fa6 CLINVAR:14463 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76c62d03-cc02-4023-a14e-7137b49eebf9 CLINVAR:14463 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff0174dd-7a8a-411b-8299-7c3b5de81022 CLINVAR:409822 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d522a414-2d8e-4eb4-8ae6-35ec772657da CLINVAR:409822 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2192ffb-a943-4251-88a6-c3553bb182a5 CLINVAR:14466 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a42b3a88-ac80-47ff-a011-1f4c8244ee3b CLINVAR:14466 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53d662e6-5b38-4263-92c5-a67e8819b8c7 CLINVAR:532664 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b616b66-d701-4650-905b-d2b295d40d90 CLINVAR:532664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 172ff2a1-4275-4571-b56e-7dbde351d41e CLINVAR:339874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d485915-33a0-4b3d-adcc-a8f9a6b3b5b6 CLINVAR:339874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a33cd60-4f95-44e2-bc6c-30a9443dc6f8 CLINVAR:532662 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6469d34b-e165-4538-8ccf-93f614feb702 CLINVAR:532662 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0226eb9-2113-4a81-95de-b22daf1de254 CLINVAR:436618 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e814878-425d-42d0-a4ff-6cf4bacc47b2 CLINVAR:436618 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8709077b-fdfe-494e-b81e-2da5da154a20 CLINVAR:532659 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfc901ae-6015-4c13-9f1c-deb2590c6c1f CLINVAR:532659 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b7921ac-8af2-4315-9733-478889f9b29c CLINVAR:561246 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 267e32c0-18e4-49a2-acb5-235da217891f CLINVAR:561246 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37c375ff-b12a-4951-b369-891fd836c5f2 CLINVAR:561243 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0b0c4f0-c2da-49d8-93af-4230f2600e8d CLINVAR:561243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e94070b-9898-47d7-9e2a-40d805e9bfc0 CLINVAR:463994 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f3e44ca-4b73-4a93-9ec7-170ad26409dc CLINVAR:463994 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cd63450-e37d-4049-a868-a4bb6f043f3e CLINVAR:532671 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7646467d-4c26-4323-9933-5f7d7ae707d2 CLINVAR:532671 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e727ef88-a8ed-423f-b12f-abbd38fb01bc CLINVAR:436617 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9eb7f2dc-a04e-4ea6-8499-8a46ac6489b4 CLINVAR:436617 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a00b95b4-4f84-4262-a43b-4c49378d7b93 CLINVAR:561233 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0751b4c9-b649-44d2-96ae-0f1e93e7d2b6 CLINVAR:561233 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d72512d-5406-44c7-86c0-c3b796f4ab22 CLINVAR:666274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 437fc5e8-b66d-4734-911f-e785db2f39d0 CLINVAR:666274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d43f8ec-4e56-425f-b455-af3e170b892c CLINVAR:417477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96a2957c-9cb7-4437-a83f-a5e53261b82f CLINVAR:417477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42feb0b2-3343-46a9-a7b1-cce445e7ebd8 CLINVAR:463975 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b04c2eba-2086-4ca4-9c94-357e63d4043c CLINVAR:463975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffb86ce3-6fde-433a-a7eb-dd32470c4234 CLINVAR:254081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9736ee73-49ae-43b7-b8c1-303c870e88b1 CLINVAR:254081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a7de5b-00eb-4aa8-9de2-160c67192d60 CLINVAR:120275 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 771147b9-f2e3-4afb-92cb-58881024b95b CLINVAR:120275 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bf2e042-16a7-41f4-bb6a-5458bb2c350d CLINVAR:102892 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78fc8752-69b1-4877-8398-7a063291647e CLINVAR:102892 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2879df5d-844e-4597-ba61-8eb28bfe1dd6 CAID:CA16020877 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2533ef99-a21c-4737-a63c-7e6050e6768d CAID:CA16020877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe7f22f0-c5c6-4e5a-b4ce-99b6ac72874c CLINVAR:125436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e85be3e-0a6c-45a4-9f6a-55d7e0e78693 CLINVAR:125436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 622a1e97-ab9f-41c3-be50-f019329278fa CLINVAR:120278 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa78611a-d3ae-45e3-abec-edd4a39ac594 CLINVAR:120278 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8f9820a-0956-45a9-aee9-1a8f83c7477b CLINVAR:102832 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a738872-045f-4814-8456-30ed734e2f61 CLINVAR:102832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aef32189-9050-482d-870c-5932c32d1305 CAID:CA16020720 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca8229ac-24c2-4e09-837c-e8db9ede079e CAID:CA16020720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e533b73b-19f5-4a0b-a1c8-443fa1a63491 CLINVAR:102749 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72d12b0a-5ddd-473a-a717-30e636b90497 CLINVAR:102749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dfaa17e-4221-4bca-80f7-b5736a433e6e CLINVAR:102757 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d876e64b-875b-4af6-945c-71eefd4b5cd8 CLINVAR:102757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b137724b-019f-4b04-ad29-0b03540a5b3f CAID:CA16020722 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen caa1b95f-d987-4b2d-8958-72ae11e072e2 CAID:CA16020722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12ae0a2b-37fe-4ec0-9937-a01f460c3de8 CAID:CA16020714 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa389f8f-fc16-470c-ab73-3a7c1fb44534 CAID:CA16020714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a44edb0-d89a-408c-8e7b-ff64a2c6c1f5 CAID:CA16020715 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b1df8a0-ff7d-487a-9aee-cb6a85983c35 CAID:CA16020715 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bbf3f2e-a209-435d-aff1-a83066cde3e1 CAID:CA16020716 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 522a42d8-719b-46c7-9280-5eaa8726613c CAID:CA16020716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b67e4d-eaae-46bd-afd1-6b754e994985 CLINVAR:21385 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af6dc831-18a4-4b15-a506-7276e88fe473 CLINVAR:21385 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 373d024b-6f4d-4e90-8d38-56f170265936 CLINVAR:444219 biolink:causes MONDO:0020678 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c62e0b21-53c9-4b3e-87a6-90c5e211a1ff CLINVAR:444219 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fd269eb-24b5-4aa0-a579-649d0b84ad19 CLINVAR:2356 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b0d9183-5c5c-477e-9798-a4f6c9dca296 CLINVAR:2356 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5593515-4b15-4681-ad60-0104e111fc91 CAID:CA891862634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23ebbe37-7ce4-4d9b-bd6f-c36f4debb36e CAID:CA891862634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2826e00a-9d31-42aa-b03a-f7cc2480ea31 CLINVAR:102597 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54c639e8-3d0a-44fe-889b-b975537eb111 CLINVAR:102597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b518376-67c0-42a7-aafb-7a61ac3a8cd8 CLINVAR:120310 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75acda4f-f6f6-4a10-841e-ca483fb98d43 CLINVAR:120310 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 270b1e6f-e46e-4558-bf88-f5893293a9cd CLINVAR:611 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 782d2637-f4ef-46a5-96d8-0c1f255bbb09 CLINVAR:611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9230d544-3e34-4b70-9deb-bce578a544b7 CAID:CA16021002 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f21f8d06-b81d-4bba-bb1b-ffe3764732ca CAID:CA16021002 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9aed019-1b61-450a-b1a3-537359ac16a0 CLINVAR:102531 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cf49726-f53d-41bb-9f8e-340b71b4b48c CLINVAR:102531 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e74edc1-7eb2-4b2b-af1e-6085c60c17a9 CAID:CA16020735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b923f3fe-df94-439c-b881-ee46c21c705a CAID:CA16020735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79cf3b47-ad42-43e2-be15-dc040f701e95 CAID:CA913184971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3e653ea-9319-4555-aec3-34ee6bcc41ed CAID:CA913184971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c15e61cf-9c53-48ae-aa61-22de08e650dd CAID:CA16020737 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba44a11d-ee0c-4090-9fff-3e33cc1375ae CAID:CA16020737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bf9bfda-5d61-4aec-ba12-fe2991833b3d CAID:CA16020872 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8ab43ab-9cf0-41a9-872c-275c22783fd4 CAID:CA16020872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fb88785-b8e8-4c58-b9dc-2dd0587bad05 CAID:CA16020746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 643f2129-b803-47c0-b20a-00d14cc88a7a CAID:CA16020746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0242ec81-be48-4129-be84-7f2ec6b45828 CAID:CA913184978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 744b6a73-6eb8-4944-8993-4b368fa44f44 CAID:CA913184978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dc8ff1a-b92a-4af2-b0cd-2feaea5a9eb1 CAID:CA16020742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d84f314-df76-4ec5-bbf9-702187210437 CAID:CA16020742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4f2c625-4aa4-41ce-a5aa-31d1a8a060e0 CAID:CA16020759 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de95af96-031b-4e0b-8eaf-789243833672 CAID:CA16020759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3252a1a1-8205-4277-a9db-c6d843661b3b CAID:CA16020888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a471b15-13eb-44a2-894b-3824a10ab41f CAID:CA16020888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc3d1d43-3d9d-4f87-b4ab-6a58688b7fe4 CLINVAR:102888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0ac0254-b412-4d6f-9c54-6330123422a8 CLINVAR:102888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cf6c9f7-2075-4a06-b90f-256312128198 CAID:CA16020730 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba41b224-8536-4f42-a2d6-89bb483b9e1a CAID:CA16020730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9207d457-04d5-445b-998d-373e16cecb68 CAID:CA16020721 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b370dd60-3f6b-4950-bec3-af9688db7e4f CAID:CA16020721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a73a4eb-ff90-408d-9fa2-07e3528150e3 CLINVAR:102607 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 772e4b5b-880c-407d-8a56-d418d1f99d99 CLINVAR:102607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ecd2d00-3a7e-47c3-821b-e88f5e00b743 CLINVAR:102613 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f3625ff-f623-4817-bda2-d720f85c7c86 CLINVAR:102613 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9884923b-3959-47c7-b37a-0d5f9df57196 CLINVAR:555212 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c40ddebf-30cf-400f-9aae-713ac78f0777 CLINVAR:555212 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d996e27-0ce9-40a4-82bb-52acfe0f73ed CLINVAR:2355 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6296588-9682-42a5-a23a-491076669c41 CLINVAR:2355 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ed7ed1-0c60-4f1b-a6ca-bf361cb339a8 CLINVAR:140803 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0b4cc55-b5d4-4860-b8c9-bb953546525d CLINVAR:140803 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad76dcd7-b361-4c0f-bf5a-c79b06f18195 CLINVAR:545785 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41886ad6-259b-49d5-bcee-bb7837f6fb9e CLINVAR:545785 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 434414ac-8c34-4780-bddf-c3368316c3bc CLINVAR:582514 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54ea2585-a5ac-489b-b858-e0786d5da780 CLINVAR:582514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d924325a-7d7a-4362-bafe-8168f2b498a5 CLINVAR:545738 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51f075c6-0bba-414c-9b78-3301832b8e8c CLINVAR:545738 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93491d3f-5ae9-4577-902a-33ae43e5266e CLINVAR:578952 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 832b8cd0-6fa1-4938-9c65-b897d87e172f CLINVAR:578952 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5061e517-2552-4870-8e65-73d96836d790 CLINVAR:463743 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22a7292a-5a67-44f4-8e95-9f60a739a607 CLINVAR:463743 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fe73ae3-5bbf-4be3-8d9f-c7e6634c717c CLINVAR:142888 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30db02b0-0280-4b08-9714-4d3db2805210 CLINVAR:142888 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41b26dd3-5f19-4dab-a91d-c7d631a2d746 CLINVAR:141206 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d7516c8-622e-4242-a5f3-7c3b3fa15808 CLINVAR:141206 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a73c4166-3be8-4ec3-8447-af1d44030a4c CLINVAR:406669 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 991200a3-952a-40a2-9a33-11a49b518948 CLINVAR:406669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35b048db-2157-4ef8-818d-604b313d7b4c CLINVAR:483251 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e15e8b9-fa41-461a-b679-60b9d5980aaf CLINVAR:483251 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94cea367-eb49-41df-a55a-1cb5bef69a59 CLINVAR:406628 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8de8f84a-71ac-46dd-a4db-fc567e18782c CLINVAR:406628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb1fb30-a46f-4078-9b55-5e46833c7a76 CLINVAR:406616 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1771040e-cec6-4cd0-a0df-bd3d5967575e CLINVAR:406616 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3989d4a5-9745-47fd-acc3-f85bd090b911 CLINVAR:483227 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a85e778c-d693-4bdb-a77f-a2d7a8478a3d CLINVAR:483227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 429c0d4b-4254-49cb-be03-e1c1dd3b82f7 CLINVAR:422315 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcda408e-afb3-40b3-b95b-246386e12c15 CLINVAR:422315 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5bf5684-d098-49a1-a560-4ab1c39cab4b CLINVAR:463742 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4beb9395-caf8-45fb-9c3e-6dc17dbc2071 CLINVAR:463742 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e747c27c-9682-4f03-b5d8-5c6f952b34d4 CLINVAR:239891 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27211c2a-f2e3-4e92-b29c-4bc47c6d92ed CLINVAR:239891 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e83aecc3-7f6e-4363-aaf1-a556d47d8b75 CLINVAR:231923 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2412f3ff-ea88-4cce-be23-c71da63b5f6f CLINVAR:231923 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b7080d-82dd-47c6-8d82-fdc08c59268f CLINVAR:567608 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06e75bd4-231a-4d4c-ac2d-134b0cdb9f33 CLINVAR:567608 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e0fc672-6410-4415-bd43-81f24130b490 CLINVAR:187239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0114d52-c473-4ad5-90a8-40ba9b0d9973 CLINVAR:187239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ee0f31d-7512-40e0-b94e-f4d5276af6ec CLINVAR:233979 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c33df050-4801-4ba9-a5e0-361d57bca403 CLINVAR:233979 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e604f44-3f2c-4515-a439-ecdeb6f9a0e4 CLINVAR:230451 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b695fb95-da8f-41da-a928-e7fc2e2da5c5 CLINVAR:230451 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0332d1a3-267b-483d-9247-cb06ded5c411 CLINVAR:156374 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adb29f1f-c09a-484f-83fd-0ee9c457e85e CLINVAR:156374 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38c3c434-2b8f-4fda-adb3-d085f5a91b90 CLINVAR:234595 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b2bbc13-b223-4bcd-a626-ed884077fbac CLINVAR:234595 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61923782-904a-4fc8-baa0-67cbfcc090d4 CLINVAR:234594 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e092425b-623b-40de-9384-269918ba25b0 CLINVAR:234594 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c29d6c-9bd3-439a-beeb-ab0b7e8977f0 CLINVAR:183750 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0647696-eefc-41d5-8f20-3fcdb6cf4df2 CLINVAR:183750 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bda4f96-4fc0-4a20-b28b-a5ff2c504a93 CLINVAR:12240 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dad32dfc-c975-4253-863c-74a13ba130ad CLINVAR:12240 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a30747f-2c2f-4e0e-bb28-abbdb3c32f55 CLINVAR:406646 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff2167ec-4688-406d-a5b2-c3cee8c723a5 CLINVAR:406646 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e168711-15b7-44bd-b6bd-d0030b5fde54 CLINVAR:491538 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c9fc9d7-3af2-4531-bfb1-d0aa6863f4f2 CLINVAR:491538 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0518ec2-1c8c-454b-9105-77c4dd584587 CLINVAR:406644 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d06a8a9c-6847-4ee3-a561-5fb7ca7b9c8c CLINVAR:406644 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25e51545-bcaf-43a9-96b3-ba38a6cc4a9d CLINVAR:12234 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cac0c4c9-3198-41a3-9f25-e2625c0971d0 CLINVAR:12234 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ac3c090-2af6-4341-a02a-e78f02308abf CLINVAR:567085 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9461c66-4a18-4958-aa84-d0e068ffba86 CLINVAR:567085 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87b2e74f-86aa-4d3d-8dd1-fa15f272ed10 CLINVAR:182393 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 253dcfc5-c39d-439e-aab2-60ff841f1f69 CLINVAR:182393 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0baf9a49-98c5-4ba3-9c59-060c93cbbd13 CLINVAR:230948 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f0ada28-8057-4b42-b8d5-6dd72574d34f CLINVAR:230948 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c4ca44-4339-4db2-8cf9-902d2725ff51 CLINVAR:419385 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd4f03c0-fb83-4763-a42d-41a54da5c08b CLINVAR:419385 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10a0b674-4888-40f9-8c6e-7670ad1e64fc CLINVAR:141661 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 357ea897-dc20-439d-9ccb-736c038e4ae5 CLINVAR:141661 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b5f0347-39aa-49be-8d30-1d0fe11661fc CLINVAR:496819 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73e08907-7ac2-4764-8bd2-88be7d630928 CLINVAR:496819 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01e92828-b3b8-49bf-b05f-1b0e9f8901fc CLINVAR:428618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad3612be-13b2-445c-9fe7-7ca9ca59a8e9 CLINVAR:428618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db30c1ab-feb1-4ec0-95d6-49e5060a9e6d CLINVAR:492677 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4127c53b-d99d-4c55-be34-ab96a904d56b CLINVAR:492677 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17b10103-8c8c-481f-bf14-bfe198a48d86 CLINVAR:12236 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72d183be-a73a-4292-8998-9733999ebcb4 CLINVAR:12236 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e1dc4c1-b983-481f-850c-0191ca6268aa CLINVAR:185408 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15b67362-0356-4379-b701-8fe480e7dc3d CLINVAR:185408 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 004476f7-3966-42bb-9fde-9a4291cece04 CLINVAR:230956 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e458700-499b-46df-a1a2-ad0a98be24ab CLINVAR:230956 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd7bd372-0398-4054-89ee-d361e60d119f CLINVAR:12239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2108a7ea-a3e4-46d8-8246-7715c038f530 CLINVAR:12239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d7b81aa-2834-41fd-9533-a494f4797151 CLINVAR:548782 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3f5eb73-1ee5-4fb4-a74c-f173ae633357 CLINVAR:548782 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb4441b1-a274-49c1-8d9c-b048f9632395 CLINVAR:179479 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 734479e5-813b-49e7-a481-d7cebaa4e31f CLINVAR:179479 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f0b0338-c968-441f-be6c-a25cf0ed7135 CLINVAR:141951 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 710dd8f1-c89a-40b7-8566-d6366f588eb9 CLINVAR:141951 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a841c6f4-757e-4f37-a6ed-cf766143c814 CLINVAR:239909 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e4e0439-af09-4568-8479-017fa1548f57 CLINVAR:239909 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 945644b5-5768-407d-aa50-ff63dd659dcc CLINVAR:428628 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40ee24eb-e762-445e-8205-f51f3d62b244 CLINVAR:428628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dbe6a1d-380d-4029-821a-948dd5b03948 CLINVAR:279747 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f479cd0-2594-4732-8d6e-f84d59957d1d CLINVAR:279747 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe648c4a-c02f-427e-aa3e-ac8de917c466 CLINVAR:186618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cfbaf44b-00ff-4aa7-8204-1c42772c3f69 CLINVAR:186618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9456ad83-0789-4224-a73e-eb4321d733a7 CLINVAR:43528 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfb88a1f-c079-41e5-b5c5-cdf049cb796b CLINVAR:43528 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ae89a2-1fff-48de-aba1-c93a90ac7197 CLINVAR:43527 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33ef6737-fdb6-402c-93c9-b07b4434e66e CLINVAR:43527 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc2f56ec-7380-43dc-80b6-74955063bc19 CLINVAR:255733 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0871dc4-1f58-4c2c-a538-4fce2d6ddc72 CLINVAR:255733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f56dec7e-69b6-4330-af37-4f5243a4a79e CLINVAR:616 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2439052b-81bf-4a92-a325-fd57b78659a1 CLINVAR:616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3217123f-f1fd-4a9c-a261-8d065db30f26 CLINVAR:430401 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 353ba42b-122d-409b-aafe-2f3463b19618 CLINVAR:430401 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34a5dca5-1449-46ab-b73f-34686406e8d0 CLINVAR:194161 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d1e82f5-c744-4613-8bbd-a6d74673e642 CLINVAR:194161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bb57da9-20f0-4d2a-9b95-e3424ab2e595 CLINVAR:102565 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bda640e2-8dab-4172-b08d-8169d344e110 CLINVAR:102565 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7b3477a-7cc4-4a6b-8d49-bfeddeb39692 CLINVAR:439227 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82376bf2-d77f-4ec3-9c11-ed6c193466ce CLINVAR:439227 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31502c28-8f09-43c0-8e94-8d9d1a4606c8 CLINVAR:102674 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12263339-92e2-4eb3-9fb1-63400f149c60 CLINVAR:102674 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 184403ff-f6cb-4721-bb99-c9e08a5f57f4 CLINVAR:102633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fcd88057-26ab-4423-bc5a-2252d9c60a13 CLINVAR:102633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2899b75-100a-4122-bb65-fee1fbeaa5ff CLINVAR:120292 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7f56ac3-2bd4-4ede-9b28-9ada491f6bf6 CLINVAR:120292 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7d9ed21-2437-49b9-bc2d-8e1552759548 CLINVAR:120296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1a17762-698f-480d-a8a8-516a5deeade9 CLINVAR:120296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc946f1-a18b-48b6-b720-d361f2589970 CLINVAR:120268 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c4acb6b-a1a1-4db3-a7d9-37db63b24133 CLINVAR:120268 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54247fe6-e88e-48c1-9b66-9aaa3fa1990e CLINVAR:102608 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 807a18c5-b4ba-45dd-bc83-16f21d0222d4 CLINVAR:102608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b247e855-ca4c-4570-9dce-93bc65f0f9ae CLINVAR:40842 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dba0858d-5662-4d7d-93f3-78940cb3aeee CLINVAR:40842 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2544142f-4e5a-49c8-8056-f169743f8add CLINVAR:181510 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d43c7475-e4a8-49ff-8a90-4b20a6e0e60c CLINVAR:181510 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89379eee-a6b4-451e-a6c5-2151c38cf406 CLINVAR:180859 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0203c2a3-43b9-451f-8aec-655c9d651c44 CLINVAR:180859 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a343e56-e16a-4a50-ab0d-ee20907e1c7c CLINVAR:830078 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fdaec32-38fc-49b7-bc58-61003ef77209 CLINVAR:830078 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dec6d92-1d01-4059-9b78-ab8c201819ae CLINVAR:438172 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2a44385-2db2-417a-aa65-ce3de1f28907 CLINVAR:438172 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6da6847a-9a20-4e06-8fdb-9e1cd65130a0 CLINVAR:45366 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5971e5c6-5740-47db-b39b-d1f9d917d3d9 CLINVAR:45366 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4780a775-577c-4824-b1e6-8c3b43d68d2a CLINVAR:4928 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e40127b6-9996-48c2-bb8f-7435a1c735dd CLINVAR:4928 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4f15dfa-18e3-4dbc-a9aa-dcaa91fdda26 CLINVAR:590799 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0e8c98b-8358-4c88-9a67-fa73b72cf467 CLINVAR:590799 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0e81e78-4743-4fbe-8171-5f7827ffdb57 CAID:CA16020920 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04932b6a-74bd-476e-b886-89b1407a661e CAID:CA16020920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11dd3b8a-522f-4c66-93bc-7eede7b4296a CAID:CA6748732 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54575ad7-28f5-4cff-a9a9-5089b45f4fb6 CAID:CA6748732 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f69efc12-26f0-44c1-a080-65b760fbc717 CLINVAR:4926 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 230f212e-e57b-4c44-8178-ded291ee664d CLINVAR:4926 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36e85a8f-9307-42cb-a2e7-f4272eab7c0d CLINVAR:48503 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42ba2fb6-d0a8-4c8d-bffc-7376fabb5b38 CLINVAR:48503 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d90e5627-3064-49a2-9814-637e6bdcb762 CAID:CA16020771 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8949a040-716e-4d60-9548-cd5f1b14b422 CAID:CA16020771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65fac180-cca1-45e7-9655-bb2e9ab73e2c CAID:CA16020929 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56144a27-01e1-4776-85fe-48db074cbea1 CAID:CA16020929 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86a90208-b610-45a2-ab9d-cb9fba8c0a55 CAID:CA16020930 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8d6e4bf-5331-4721-bda2-c7e4c80d2bb0 CAID:CA16020930 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b7f528-a82b-40e0-88c5-0a8e25f08559 CLINVAR:604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cc87fa2-64bb-4471-b0d8-2cd15270caee CLINVAR:604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 066ca16c-c1c0-43a2-9feb-9d557567a1e7 CLINVAR:102672 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f46ac79-4645-4eb7-86fa-4e9bdc09a927 CLINVAR:102672 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2d13a14-3582-45fd-85fa-1836a8ee74a0 CLINVAR:438177 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b690f40-03db-4315-b7bd-41eb6f44a676 CLINVAR:438177 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72004b25-22d1-4e04-82d0-1f2dc52718a9 CLINVAR:430229 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12c7db0f-b10b-46ba-95f8-d24f005e8b89 CLINVAR:430229 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 732d3334-8859-469c-ae45-dfd1da91d33f CLINVAR:179773 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1807103-f01f-433d-adc0-ebccf24052b2 CLINVAR:179773 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75699cf9-1649-4ee4-ac78-69b65faa30b4 CLINVAR:48395 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00c846ba-a00e-430c-b56f-9b2a59443da7 CLINVAR:48395 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75dfeeb0-b964-442c-b736-6f9945c5232d CLINVAR:226441 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd701a0d-9768-4cbc-8d00-fe5833ee8bb3 CLINVAR:226441 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a038e56-c84b-446b-8b77-fb845ee1a69c CLINVAR:43521 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2f7e006-e727-4449-b840-9e3dce9198bf CLINVAR:43521 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90ee0e78-6e1c-41e0-8b01-ccbf944db940 CLINVAR:43186 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 749d393b-6ccd-4e36-a834-9350db82b9e5 CLINVAR:43186 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcaf4561-f68c-47ad-bd0a-90d2d2d845fe CLINVAR:48544 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a84dddc6-dcc3-4fdb-aabc-347921864da1 CLINVAR:48544 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3e16dda-9a09-499a-a41b-5433b3dc2a31 CLINVAR:48417 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6306093-8787-498b-b215-7ca77c4c138b CLINVAR:48417 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f685a0df-bf96-42b4-bc26-f54b92daf07c CLINVAR:429984 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40a1e185-fa3e-483e-871a-16d1c299d7fa CLINVAR:429984 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa92afe3-1ae5-420a-9838-7008909ee4fe CLINVAR:290125 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b35844d4-5b94-466d-b736-4a76aaab833b CLINVAR:290125 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c2fa9f5-3762-4fed-9664-555dc4d43fde CAID:CA16020924 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 036db4a5-ec08-4346-bcc8-32cfb7aa6c3a CAID:CA16020924 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 173d5dcd-b555-404a-accd-a03faff850b2 CAID:CA16020966 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50c3a0cb-7409-4b81-89f8-42407fa1f409 CAID:CA16020966 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41526602-9351-4cea-a095-a20897fd5ae3 CLINVAR:102589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b5f3520-3995-4809-8bba-fe487064eec3 CLINVAR:102589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03cce460-3ce2-4e76-92e6-d76a8fe1bd13 CAID:CA16020931 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba47c685-3637-491e-8657-0777e0732632 CAID:CA16020931 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 645fc06f-8b4d-4e45-af2c-bd3967c02454 CLINVAR:102590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a50958d3-a2dd-4b06-916f-81493fd45b39 CLINVAR:102590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07fe3bd4-6434-44b7-9e9a-43381ff42b9c CLINVAR:585208 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c07fc1a4-3901-454d-870a-b2fce19d0f90 CLINVAR:585208 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a8591f9-c838-4fb6-b8d5-e6b1e4217b35 CLINVAR:120293 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 743bf061-7fd6-4632-a18e-11ace7e49d27 CLINVAR:120293 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7edfbc82-1c2e-4eb1-ba80-d87a87daff49 CLINVAR:120295 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 223657a5-ff8b-455c-a5ae-5486d0dc197c CLINVAR:120295 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 351de6a2-eaf3-4fc5-8213-7e8988e1a999 CLINVAR:120294 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c37266b8-ab6b-44ef-8a6f-1089c77c5ad3 CLINVAR:120294 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91f2f843-c19d-4fa1-b415-cca53e60b191 CLINVAR:549954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afc82cde-df50-4cc9-b86b-7aafb23727f7 CLINVAR:549954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dc71466-28dc-42d7-9bd2-2aeee6b61528 CAID:CA16020754 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 560cd13a-9c56-4b1f-a315-9705315b8dab CAID:CA16020754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fa577f0-015d-464f-bd6e-6feda5c00dde CAID:CA16020755 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c272a24d-0b85-4f2e-8620-6cc16cd5063d CAID:CA16020755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6457ec45-502e-4bcb-ba51-4b93916b064c CLINVAR:872832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c394a52-3b2f-42c0-ae4c-3f879da0fa4a CLINVAR:872832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81aef777-7778-4d6b-81f7-c9170a540434 CAID:CA16020782 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 637f0dd7-4161-4552-acba-ab2dc967d6fb CAID:CA16020782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae55790-ba24-4741-9c2e-0bd10112fa8d CLINVAR:872834 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bac33685-6e68-4d33-b677-e0416dbd482a CLINVAR:872834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bec431e3-bb3e-490f-917f-718ca6e1fd32 CLINVAR:164724 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12ef486b-d588-46da-b63f-521e6c164e6c CLINVAR:164724 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d7b0fad-2b91-49ff-a402-ea04bf5acb05 CLINVAR:178667 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9144d2fa-bcb4-4f8c-9532-de9a065e76a5 CLINVAR:178667 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ce950d-bede-4dfe-a517-3ff17e8c5d99 CLINVAR:43335 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 419b3b17-fff6-4b48-88dc-9dd03b9ab0f9 CLINVAR:43335 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b59cfc2-fb30-4d98-8ca0-35750cdbca44 CLINVAR:43541 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbc20635-b50d-4555-9c01-a6cb07f781c6 CLINVAR:43541 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2619671f-f087-4dd0-88db-20bcaaa45fdc CLINVAR:208366 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d38f8269-e09d-4f47-9362-fc384efb845f CLINVAR:208366 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 659231ce-9e02-431e-8f37-276d658e051e CLINVAR:43292 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48bc9b60-004b-459e-a442-97772eec56f0 CLINVAR:43292 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76fb1592-b486-4be6-bd3f-991760bba105 CLINVAR:422345 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcc5d4a0-b5a6-4371-9906-4ff58e5773c8 CLINVAR:422345 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50e4826a-8e41-416f-9876-3911903b667b CLINVAR:228484 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59c8bded-408d-4d6e-b7bb-ce99ae1952a0 CLINVAR:228484 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef21307-a9f5-4eea-b61e-33450094718d CLINVAR:228500 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e8bd74c-6635-46de-b401-3b1626e2e9e6 CLINVAR:228500 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d06b9f3-db5f-4d63-91c3-8fb99e4b20df CLINVAR:181547 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1385f861-9767-4f8a-83ba-52d82378bd03 CLINVAR:181547 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f75be2a5-1fac-4f62-bbde-300d01a77848 CAID:CA378386067 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b74b356a-1565-4b62-b097-b21d73d47552 CAID:CA378386067 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9a20ac0-4ae3-4207-8376-445e4bcbe758 CLINVAR:428277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe0ba9ed-c7e1-4953-8c78-db7524f62027 CLINVAR:428277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca2dfaa3-e78e-4ad7-9194-072eba3bd728 CLINVAR:142878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54106513-8ec7-407f-9d2b-ff694ea64c06 CLINVAR:142878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f379783-1278-4728-a435-62301fb370fd CLINVAR:40498 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc47b2d8-1060-4d67-8afb-e85ce6520c2e CLINVAR:40498 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 757c158c-c763-4097-9875-e30b79edeadf CLINVAR:279960 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc3fabc6-f9a1-4b01-8f4e-6f94e1ce7f51 CLINVAR:279960 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 716e2ddb-0b5e-4ebc-bc3d-e8e07112680d CLINVAR:13341 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bef80ac7-25ef-4a1e-88c1-9476a56fa92c CLINVAR:13341 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 900e97ad-471b-408d-a040-e48be66430b0 CLINVAR:484600 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11dea260-ad7c-4cf6-bbc0-c28c7ee36a8d CLINVAR:484600 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e08ae4c2-9bf6-4b50-bc87-3dfa3b3ce427 CLINVAR:142018 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f54f6d88-cdab-4b16-adf2-3c28b9a25533 CLINVAR:142018 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 322c83dd-3148-46e5-b9f2-37fa43a2fa92 CLINVAR:234144 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e070792-0fca-474e-a96a-8ee82333931e CLINVAR:234144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4952eaba-eece-4168-ae6e-21012ef6dab5 CLINVAR:404168 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de898023-b3de-41b3-bd84-a2ea758a1ac5 CLINVAR:404168 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e0de2a3-1660-4353-91fe-fa38c099ab53 CLINVAR:102573 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b7b5a58-f698-4a61-8d39-f20b3e6f4966 CLINVAR:102573 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b2d3778-4dcc-468b-9512-2ae02811ff1c CLINVAR:629 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0893ecf1-d61f-47c1-a72d-f4bbca548ddf CLINVAR:629 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95674e22-fe2d-48a4-a4f6-9dcadbe0b0b1 CLINVAR:102680 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3db1990-291b-42c1-a62d-07c60b299238 CLINVAR:102680 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c90212d-2e12-4102-af6d-cea7042cefac CLINVAR:102685 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5125a40-ccde-4f8f-8956-801f957c1a1d CLINVAR:102685 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d85e1890-4c02-4730-9ba8-15ebfb678fe3 CAID:CA16020948 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0abf22f-da7a-49b7-b7ad-5ec4f816a36b CAID:CA16020948 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 753a8150-bb97-4c42-9b93-5f91f2a8312e CLINVAR:102915 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fc0f8bc-7b78-45b4-928b-44a28c557773 CLINVAR:102915 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2916d72d-7a9a-4199-b02b-056955b32097 CLINVAR:872836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bfb9735-8737-4ee1-849c-2cf4d6957be5 CLINVAR:872836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91269d6e-6c56-4cf0-8512-bbd9eefad733 CLINVAR:427599 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 533a6c19-187d-4bc7-855e-ba4890f6eae9 CLINVAR:427599 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0860a6bc-8e76-4662-a6d5-a453fa8502ba CLINVAR:428256 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8560157b-bda6-4b3a-ae9b-01008d3ee9a3 CLINVAR:428256 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71d97245-3535-41c9-a156-dfe10084a650 CLINVAR:127688 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18cfb506-4de9-4c11-a80c-06f25c7923cf CLINVAR:127688 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f19822a8-4570-45fc-9628-f4d084b1174e CLINVAR:189415 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b58ffb8-3f1d-4dce-8dff-e308d6d8aa42 CLINVAR:189415 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af8f5afe-ebac-45f5-b50c-9f0e3c81b91b CLINVAR:404160 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc2492ce-defb-437a-9612-a9f411d111bf CLINVAR:404160 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6335702-a939-44e8-87b5-00ac3f6b8e24 CLINVAR:418653 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2552f833-d043-4645-9bb9-72c2a10c0fca CLINVAR:418653 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0adf5835-e230-4657-a4bf-8440a0edd7b1 CLINVAR:421055 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 833cb7ee-0d68-4d35-b3f0-01db124d3068 CLINVAR:421055 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c2252c0-a1dd-49a5-9949-93263e512f2a CAID:CA410202469 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2529b7d-764f-466a-b481-5510b7e10492 CAID:CA410202469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 249c79a1-a946-4c25-ab79-f4bf44d3c775 CAID:CA645614124 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00efe086-2610-44dc-9e1a-580febe3bf91 CAID:CA645614124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6d3fa0-589e-4034-80dc-0b76ee6814e4 CLINVAR:561253 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90841160-976c-427e-8037-6defb9d97625 CLINVAR:561253 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82c63321-5e62-45a4-baa2-f6aae4f37753 CLINVAR:627342 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59df472d-5c02-47f1-a9af-b9fd06559892 CLINVAR:627342 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b694ba0-74e7-4cb3-b6e9-c5491feb3849 CLINVAR:869209 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d11601ce-9874-434c-92e4-beeb3eb3ddcf CLINVAR:869209 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37cc709f-fe9b-4e5d-9e36-d5545bcb44ee CLINVAR:869210 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 637e4cbe-e247-4091-8a6f-548ea13e7809 CLINVAR:869210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02d314a2-9e7d-4e2a-a642-49263d3cff03 CLINVAR:618862 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b04abed-911a-418a-854d-d3081cae1b6b CLINVAR:618862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a4aba8a-fad9-4ca3-81db-af9b4af8d681 CLINVAR:234282 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5e325e7-20b9-4c6c-8585-c94d7958b725 CLINVAR:234282 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96b58ee4-442f-4711-8e73-792c0e7d3730 CLINVAR:422227 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a35956c-4f3f-460c-a5d3-25d04306709c CLINVAR:422227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93e2de1b-eabe-4aca-a7c8-c3e85c03f6ec CLINVAR:420004 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87cb53b6-ee9c-4fb3-998b-2a3e61e172f0 CLINVAR:420004 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e873dfa7-6da9-4659-8890-77fe00bb11e1 CLINVAR:463795 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9aacf4e5-2834-485f-b081-b4e690f661a0 CLINVAR:463795 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6faaefc7-6b05-4395-8714-954285aee5d8 CLINVAR:437928 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d8f87b1-61d7-4b22-ad71-b32e03b83ab9 CLINVAR:437928 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 571a0f32-9c3a-4fa7-bafd-99e04cce43b4 CLINVAR:229907 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 515eb2bf-f157-4d6b-943c-a8e4e30cdfc2 CLINVAR:229907 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adeeaad2-cf8b-4588-a671-5206ac96025f CLINVAR:231528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b410870e-c84a-40c2-b0d1-d16fe7f1920e CLINVAR:231528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 500969ff-c2a7-4e52-8cb6-07a9af759762 CLINVAR:224528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76bf5515-f55e-439f-bbd1-e3a42d45fc11 CLINVAR:224528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba1c0f93-cb87-48d5-9d87-30ce4d1f3050 CLINVAR:428620 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 436e9168-c6b4-408b-a83d-5058b5e2276f CLINVAR:428620 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbf04a47-a463-445a-8c02-b37d5661645d CLINVAR:220776 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38d4e3ee-58aa-4e63-a109-67475301da5f CLINVAR:220776 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9fdab3e-1ec2-4f71-9738-c1c9b2e60276 CLINVAR:428626 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50bcd822-510a-46d5-8f3b-bbb2fa0d4874 CLINVAR:428626 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2d4dfe1-723a-4fab-bf79-bb6905a44f0a CLINVAR:463772 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be5e9ede-232b-4dc5-9244-b8458fdfabfa CLINVAR:463772 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11214747-b462-4f95-bfdc-57da29a85113 CLINVAR:406624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73ce9cc3-ab2d-4e1e-988f-3566db6dad23 CLINVAR:406624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70c12645-9e8c-48dd-a0b1-bb1ab2718b96 CLINVAR:463790 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44832555-7141-4947-9e04-3de3714d80ad CLINVAR:463790 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6937ecca-200e-4aaf-a203-8d6d8a6d6b83 CLINVAR:569046 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23d70672-5480-40dc-8dd6-f1b64b28ce3c CLINVAR:569046 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f94085b-65d7-4662-b5a1-119d5d31f168 CLINVAR:239903 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce857974-bdf8-48cb-86ed-654f542320b1 CLINVAR:239903 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 455eeb58-0468-47aa-9825-7502e565d194 CLINVAR:463781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2dfe8998-7018-41cd-95a0-46c7e6b2a03f CLINVAR:463781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b3a02bd-a728-4772-8c80-153ba1ee483d CLINVAR:418533 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecd3eb8d-3b58-4f7d-b84b-7b24d0a59d3f CLINVAR:418533 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d508466-80f8-4f6c-b977-8ecd41281762 CLINVAR:281818 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1062a3d3-906d-488f-ba23-0a284ec72521 CLINVAR:281818 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a8e17f-7d38-4c2a-8465-f6ce647af65c CLINVAR:133312 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d866add-62b4-45b8-b3ea-42cfee85acc2 CLINVAR:133312 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71fe9177-bbd2-4f7f-975f-6c414a61657c CLINVAR:196222 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 354eb0e9-dbcd-4f85-b6ca-deaf7e873693 CLINVAR:196222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ee97240-e618-4f57-a24d-8fed13ce2a47 CLINVAR:325774 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0be76efd-8dcb-41ed-9bfd-d1627f6d3217 CLINVAR:325774 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc3207d5-85ba-4074-bd5c-12516b664b39 CLINVAR:557429 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f75f75e-a8f7-49e3-9937-6607c859c3c8 CLINVAR:557429 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b6fac97-efa6-44e3-bab6-d2735d3a66a0 CLINVAR:230112 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 196fabb1-9aa0-4aa0-91b8-f0045d84e83e CLINVAR:230112 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3107ce3b-5d5b-41c8-b44c-3301a30a388f CLINVAR:406578 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8435a814-2427-45b0-b785-605e78803290 CLINVAR:406578 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a42d08f-f7a9-4367-8e48-52e43d89afca CLINVAR:127819 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9d5aa6f-32f5-4673-8991-150d1ac99383 CLINVAR:127819 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e665d866-65b7-4aa4-81ff-029d90d48be6 CLINVAR:142766 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a63e937-326b-438b-a056-6237cf33f2bd CLINVAR:142766 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a7e3e86-8210-4aaa-b396-534ee9d89b67 CLINVAR:245711 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe2ef3ec-6d68-4760-a4b7-a001aea410e1 CLINVAR:245711 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc93027d-a8ac-47ac-a31f-033b1341ccdc CLINVAR:233951 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee9bd66e-ce08-4c18-b92c-1187db5b698e CLINVAR:233951 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f597208-a026-47ee-ba44-b9bdfaad2b3d CLINVAR:127814 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 548fedf7-03e6-412b-8280-9806bab1a193 CLINVAR:127814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45f9d7ee-5e64-4a75-96fd-bc76daf07eb2 CLINVAR:376615 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f9e18b4-1072-4a6a-a6a0-e2b7390dfbcd CLINVAR:376615 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01004ab0-f94c-4856-81d2-3ccc0a7e400a CLINVAR:12375 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22e47dbf-e16a-4b3b-ab67-04ed1ab1909c CLINVAR:12375 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 148b808d-97de-47a0-a090-a70af93cb19c CLINVAR:93323 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8912eaf4-971a-49f4-8533-1a036b4dc9a8 CLINVAR:93323 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe914b02-6b9d-433d-a502-484929c6a78d CLINVAR:12347 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca68cf1a-7727-4dff-ad99-b52ecf041ebd CLINVAR:12347 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56528b9a-c699-4cb2-8ae5-fd8930b17635 CLINVAR:43587 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8394bd89-adeb-4c51-8750-56e15d78ffa9 CLINVAR:43587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64305432-bbfe-40a6-9cda-b6a04d2601af CLINVAR:230253 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aeaa4294-d955-4bbb-bff1-967d97244930 CLINVAR:230253 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a179f896-cd6c-4eab-bc8c-decb86c834a0 CLINVAR:482223 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4daa18b2-3076-4754-86b0-4874b95c3e31 CLINVAR:482223 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1a75be-152e-40b8-958f-f3116c35a19e CLINVAR:376563 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcad07dd-5334-4b10-8079-225913a4aa6e CLINVAR:376563 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa9d4d20-d6e6-4844-b445-f6beae8b5b0f CLINVAR:428898 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5eea6d2-c4f5-4a3b-b91b-7faa9f82a674 CLINVAR:428898 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e3072fc-3533-4e66-8905-2140d9460ed2 CLINVAR:458537 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 769df2bb-0761-475b-9b33-c4d23f123c97 CLINVAR:458537 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7331a84-ab04-44e9-92b7-fa9318126125 CLINVAR:804214 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fea65ddb-d0fc-4067-bf9a-e46f90798993 CLINVAR:804214 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16839f70-5f51-44cc-a063-97234448f7dd CLINVAR:12366 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02828e79-5b22-4130-9fee-d4fcb0f7e910 CLINVAR:12366 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e74a11cd-8c4f-4594-9bd9-618b494e0403 CLINVAR:12356 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18f7449e-109e-43f3-8ede-eb47b45ad4c5 CLINVAR:12356 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aaaf2a6-f479-4637-9bb6-8babb3174dc9 CLINVAR:182969 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8c09c50-7aa2-46a8-8d1b-70339122b191 CLINVAR:182969 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f71ee228-3ca0-4e54-8c85-5ed61069aa12 CLINVAR:376612 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05e80c03-f740-4272-b479-5477377128ac CLINVAR:376612 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 556655af-2e11-47e1-bc80-d33d401402a8 CLINVAR:102752 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f68a2c7a-27f3-4aef-85b6-1c6d4ce600e1 CLINVAR:102752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c346940f-e997-4bd1-abbb-b88fe1f48cdd CAID:CA16020725 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9deadf33-c26d-438e-a721-9777adec0df6 CAID:CA16020725 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b850e840-c30e-4bd6-ae3b-4d1e982ca338 CAID:CA16020790 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46893200-a6e7-4e88-af4e-302e014979e1 CAID:CA16020790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b2d08d-9c4e-4f53-82d3-eed3faa5f839 CLINVAR:619705 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fc6744a-2457-4569-b234-b7d7514632ce CLINVAR:619705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b4354db-ca72-42fb-8d2a-dc96d94ef17f CLINVAR:102684 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0d59249-3f14-4079-8dd3-1b6fd0626e20 CLINVAR:102684 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 386fa371-8406-4ba7-9e30-586c803b6bc2 CLINVAR:102662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff1186fc-e81c-43c1-be62-4395fd04a092 CLINVAR:102662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 009cfd85-7da2-446d-b643-ba95bbf2bfe8 CLINVAR:102722 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04909a9f-5433-490f-9157-f75f12dc7061 CLINVAR:102722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8432f9da-4aab-409b-ae42-ea91d66d4f6b CLINVAR:286662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3b321e8-4fec-4f17-8a2d-a79d09ea73f8 CLINVAR:286662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7652431d-5587-4d6f-abae-6b0bd238d797 CLINVAR:422049 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84358e0e-fde7-462a-bd3a-d27efc0f6265 CLINVAR:422049 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b271e825-7ae9-402d-890f-6bc70f812992 CLINVAR:102916 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53c96048-9ee9-4f95-8cef-fb7c0586ebdb CLINVAR:102916 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6827962-3213-4957-8897-63a4e0587ba0 CAID:CA16020739 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9d15347-bfca-4206-99cc-43fbc019004f CAID:CA16020739 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc0a2e25-6b89-4119-bfba-e09fc1d1c485 CLINVAR:501777 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e957ecfa-7147-4523-b4e7-e61bdf704476 CLINVAR:501777 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f875b4e-1456-4fc4-9c87-46a76bda1c6f CLINVAR:526521 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f2aa534-89d2-4466-b749-e99d145506b0 CLINVAR:526521 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 494d3adf-5eae-4425-9181-475fd98818d4 CLINVAR:286458 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5db37832-c823-4961-a6eb-436404ac444d CLINVAR:286458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b9a803f-624b-44f4-8e12-e836e46acf67 CLINVAR:283971 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94eef09b-b7f8-487f-8731-b0558dac7c3e CLINVAR:283971 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f65b6d3-6445-4092-968c-37ca77041b24 CLINVAR:288505 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29728a31-1e88-4228-9143-a58233ce3c69 CLINVAR:288505 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 095e4c0d-cc3b-49c6-aec8-c9a4ca10e5fe CLINVAR:188936 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73e1bb31-183b-44f9-9a83-ec6a6edb6be6 CLINVAR:188936 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cf4dd69-a1ae-4e68-97c9-1422fdb5b187 CLINVAR:188904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ea2c1dd-e5fb-4b21-a102-65d1aa3146be CLINVAR:188904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e9d0e61-d796-40c7-aa67-7f1924fe4597 CLINVAR:189025 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4bc3ad50-6468-43b2-ba2b-c9dac8e36d48 CLINVAR:189025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f0e284b-5881-482d-b771-f4a9aef27fb1 CLINVAR:189009 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen edfc6052-44ae-4121-bc5c-f631f54ae7d7 CLINVAR:189009 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 095550a9-426a-4f46-886f-692dfce6b6e5 CLINVAR:526535 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d806fc1-3864-4d5c-bfee-6465b19984ed CLINVAR:526535 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bfc3283-2adf-462c-ad99-385feffd5cc4 CLINVAR:550713 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3f313c2-dec4-4cd8-aed7-a8c353b66b9e CLINVAR:550713 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3bd8379-c6ff-43ee-a01f-3dd6ebe518b7 CLINVAR:556985 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a32cf948-69ff-4290-9f51-f3aa37dbd785 CLINVAR:556985 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c35bea15-9b17-43b3-97cb-a2b5a5a33f66 CLINVAR:932898 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8111971-e353-4dd0-8118-22ad78f8ad76 CLINVAR:932898 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e3feb0d-dab6-4af0-9685-3428709cab88 CLINVAR:932901 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c3ce230-698d-42a6-9871-15047603d7fa CLINVAR:932901 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 667cfd57-f326-44bf-baec-b9abfff0b655 CAID:CA401361056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca264809-d199-4ba0-8cac-74111ad953a0 CAID:CA401361056 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09ca9438-e9b4-412a-bb65-fcb18b3168c3 CLINVAR:495665 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57b610a4-0829-44fd-ac35-01919b0d0df4 CLINVAR:495665 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b9ca650-7f53-41b0-9044-811a7f559db6 CAID:CA658795235 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04965491-dc09-41cf-a028-e82e3a75ebd3 CAID:CA658795235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43ae09e1-ff46-4fd2-9c09-6751af6bed59 CLINVAR:370357 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcde5891-4611-4317-aefb-f39db42fc346 CLINVAR:370357 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 970b0697-7f46-488b-91fe-224aedf2206b CLINVAR:370124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50c747da-32f5-43ff-9213-0534e8a83abc CLINVAR:370124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00c4f790-f260-4438-bad6-46359d2d10d7 CLINVAR:189144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b9155f4-45ae-4d4b-ae88-99e45a83791b CLINVAR:189144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfd48120-fa35-48a2-aed6-837c494f9651 CAID:CA401364293 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 096e798d-e61f-41b7-8371-399e9415b084 CAID:CA401364293 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03bcc698-5a8c-406e-9c39-b146b0454bdc CLINVAR:574052 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5179011f-59b4-42c3-8388-5de1c77a61cb CLINVAR:574052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bf8c311-fa81-48b7-a388-67527d47c99c CLINVAR:556975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4df6fa13-8035-4e5d-ad62-f42bc6bf5660 CLINVAR:556975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b088d56-defa-49aa-ac12-44fd5c359376 CLINVAR:102894 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85052c5a-33e0-4a08-ae44-151d5eb62fce CLINVAR:102894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a608f782-3d06-4d4d-b207-cb92ffb80b43 CAID:CA16020887 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fc921f1-1210-4e1e-940f-f86dda73b6bb CAID:CA16020887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d838b73-9ae2-4316-bab0-59e8c3001177 CLINVAR:13329 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e1a3f67-1c10-41ac-b2c1-952667b94e68 CLINVAR:13329 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0840aa61-289c-471d-be79-c98273202ed6 CLINVAR:43568 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23e0a231-6743-4ac8-b377-112cbbd3573b CLINVAR:43568 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0db0949f-5c09-414d-ad96-c7dc00bddef0 CLINVAR:43495 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78ae1118-c7d2-49ce-a106-f23dbd9b00ed CLINVAR:43495 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78741a50-259f-4a3a-8ec0-6c2e96e349c9 CLINVAR:371781 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b801e7f-4f21-4f18-8a68-8daa4c010dfb CLINVAR:371781 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50c0c226-1180-486f-8afd-91ed025eca0b CLINVAR:178283 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d9f4720-c51f-4926-ae3c-b8d0c3bef418 CLINVAR:178283 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef8fb3bd-b9ff-4351-b2b6-2d37da404570 CLINVAR:92756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d84c329d-dfa6-40e4-964f-b3072e6fa8cc CLINVAR:92756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccda6141-868a-4253-9714-9f5f8aac648b CLINVAR:265979 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 743c94be-a8bb-428f-8eb6-9cc36aaad51b CLINVAR:265979 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c71e5f50-8962-41b9-b5d4-4d9e878dcfe5 CLINVAR:549981 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7946a63c-f484-4491-8aea-1a8b965bb2a3 CLINVAR:549981 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18f22f5c-a5a3-4dee-9650-f9e11c0d96d8 CLINVAR:177844 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7c6d3fc-21f6-4726-995d-a8cb03fa78a2 CLINVAR:177844 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53aa9e3f-51b9-4e98-a39e-c7d4ae261896 CLINVAR:13975 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9177cae-3b4a-4b3b-80b4-9f6883275b35 CLINVAR:13975 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c830301-3fae-42ca-a945-fd5803dba420 CLINVAR:40370 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 352a7347-e0ac-48da-902b-9112b1688193 CLINVAR:40370 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf47fdcc-9830-4443-995c-c5ddbae44b6f CLINVAR:225136 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7687c65a-ad16-49ed-8430-f06f8c3ae88e CLINVAR:225136 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3dae6ca-d887-420a-b000-e8672c149faa CAID:CA16020831 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80131c4e-5b22-4998-b880-613b61462dea CAID:CA16020831 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7aa4672-b8b9-4d29-844c-91a48855cda4 CAID:CA16020832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3d59a13-dac7-4f29-8f99-be797ab89f21 CAID:CA16020832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c87f05b0-afa0-4304-b841-dd382e7df5a8 CAID:CA6748883 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 700911e5-1841-4f41-ba53-e870485f8142 CAID:CA6748883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bca4d35-1507-4b31-a8d4-16bd826c626b CLINVAR:177876 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46f689a4-0470-433d-808c-f351291a143e CLINVAR:177876 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d79dffc-8317-4944-82e2-0306311e96a3 CLINVAR:41443 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d37b313-2458-455b-8447-274410ee4799 CLINVAR:41443 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4686026-7009-46c5-bcd2-51d0a95d50dd CLINVAR:13964 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d775d76-30b5-4891-b0f9-ba5c42020077 CLINVAR:13964 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c1942df-2b83-482a-a900-01b02d97de1a CLINVAR:561347 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 625b1f51-68d4-4b52-8f1e-ff99264e9533 CLINVAR:561347 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e48fff5-bd02-4b65-83ca-89d8de449f71 CLINVAR:222774 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05c2431c-7892-4fc7-941e-6ce18fbafb50 CLINVAR:222774 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 070379c9-53c5-479c-b1e0-022f030429c9 CLINVAR:477722 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ba72792-5864-46fa-9066-3f9a31a212ad CLINVAR:477722 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41dbd0d2-ea63-4e68-a8ea-863f6b666d16 CLINVAR:359048 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d37ae13a-8902-4e78-b589-ecb888083b8a CLINVAR:359048 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eacc467-6480-445a-bab1-3baa4b87d10e CLINVAR:40654 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc7ad2ed-669a-443c-b6d3-134774385070 CLINVAR:40654 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd111d00-952c-411a-9d32-51d4c430e9bd CAID:CA16020836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84713bdb-3f1f-48e5-b38b-10c5e6b4e5fa CAID:CA16020836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b179b0c7-055c-425f-8721-81be04e65588 CAID:CA16020854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 533b3d84-0f53-4a7e-9590-259fa3192ba4 CAID:CA16020854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b386c7e-9757-49ca-864b-dc94fc24a839 CAID:CA16020922 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b13f71d-82c3-461d-856b-896242382e2c CAID:CA16020922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4992f0f-c6a2-4954-9dc5-4db8f171ae22 CLINVAR:228282 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d15f268-bcd1-413d-b411-f851090789e8 CLINVAR:228282 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0672b86c-3dcd-4418-a51a-bfac62012c88 CLINVAR:229012 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4d1ab61-fcea-47da-96b4-b5f979ca1c96 CLINVAR:229012 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10845dc9-4b04-4601-b1ef-7e6914a25c46 CLINVAR:43185 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67c7571b-687e-47a8-9358-151a49e356c6 CLINVAR:43185 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e46a44b0-9cca-4e42-b659-c83863744d40 CLINVAR:569590 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff670e25-042f-42a4-9bc4-abd426522d82 CLINVAR:569590 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3226c62a-26b0-4395-8d4c-3d7be347def8 CLINVAR:181553 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dcf4028-23d1-42dc-810e-3e702eaac093 CLINVAR:181553 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01328588-320c-456d-8203-e7d95655631d CLINVAR:561935 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d020fbdd-c571-4e5a-8338-379240052fa1 CLINVAR:561935 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df965cf5-311d-4602-81a6-625985a5fedc CLINVAR:228273 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8a9f965-d5a3-4aa3-9996-0c7bafbeba9d CLINVAR:228273 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d900d787-0383-4e26-ba52-33fb3ae72b66 CLINVAR:40388 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3877b9a1-d385-428b-8254-12b605c175f7 CLINVAR:40388 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e06de33a-0b3e-4042-a300-d0d06389ba3d CLINVAR:280033 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 689663ac-0cc4-4614-afb2-7e6daf970dae CLINVAR:280033 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee33912e-f6d5-4ce5-9c5c-856f6d26980e CLINVAR:280939 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10726b11-1227-46db-a32e-433511b9a5ea CLINVAR:280939 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08c1c8be-ef1e-480f-9c05-b2c833a9f570 CLINVAR:575203 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a256460-0615-4a25-8a6c-bd05a0e7c6fc CLINVAR:575203 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9b08ac8-d98a-4eb4-acdf-c977e6737e53 CLINVAR:427613 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf5ad4ba-ab4f-40b0-a046-b0fccc290334 CLINVAR:427613 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f4762f7-8eb5-4a32-b551-971a2a6f629a CLINVAR:427621 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5f3cebf-c70c-43fb-8639-87f893bab0ba CLINVAR:427621 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5c335dc-1361-46db-b539-9d5e2be53333 CLINVAR:427619 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c44bb02-f5ac-49f6-9240-0935f9b6bec4 CLINVAR:427619 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fec99bfd-987b-47fb-a584-8f929ae66005 CLINVAR:449089 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06220bc9-2a65-4d4e-bacd-611c908c4675 CLINVAR:449089 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 878ee396-72b0-439f-b422-9f3013dcda5b CLINVAR:142088 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b02ee77-5d52-436f-b8b3-3735f2aac82c CLINVAR:142088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69528339-4651-452d-b971-8a7e90f744ea CLINVAR:301423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afeaa3a1-4dd6-4574-bda1-373a30718271 CLINVAR:301423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cfef2c4-15c4-4c52-b830-fd19a13daf34 CLINVAR:428268 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce3687a9-93db-4d20-9b81-79efa03db212 CLINVAR:428268 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5e79f50-246c-40bf-9772-d4b31c9b063b CLINVAR:189414 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bef49c6e-2cfb-42a8-945f-ddb3be66c24c CLINVAR:189414 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 795a68f1-086b-4574-a859-ee90c339aa09 CAID:CA16020943 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69643014-e1b4-47a3-a058-52ea87bf158f CAID:CA16020943 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad06f54d-687f-489b-953c-1f2eacb7e66d CLINVAR:102583 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ec8e5ce-2030-42c4-b16c-162c9dfcd6b2 CLINVAR:102583 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aea1e172-df01-42c7-a87b-348e36606198 CLINVAR:102922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99d75c35-3c3d-4cca-bcc3-e9f5217d8194 CLINVAR:102922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef508dbe-1b98-40f4-bd47-83feb18dc9be CLINVAR:102879 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bd77993-d21a-4cd4-8d7d-930e829e9e4a CLINVAR:102879 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad245e1d-87cd-4329-a90b-b7d3749a1d9b CLINVAR:556894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0c85110-b60f-453c-ae2e-4dc188322376 CLINVAR:556894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b58e10b-8237-471c-b465-99a4d2b90567 CLINVAR:102852 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e5d1155-d301-4969-916d-34842aaedd31 CLINVAR:102852 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d32002a7-745c-4fda-8123-190818b8adb1 CLINVAR:102782 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09d8b0ab-70e4-4df4-af14-9054eaed192a CLINVAR:102782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 187497de-eee0-44cb-9c51-4c37ab88cd8a CLINVAR:625290 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd25db70-809b-4e6a-af02-31fd650701bb CLINVAR:625290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f344b57f-1e2f-4061-acea-0321d3a18037 CLINVAR:625286 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e37aed0-3509-40b1-9ee3-883419cf6f09 CLINVAR:625286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a697851-169b-4c11-9588-630f433c1a1a CLINVAR:625287 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94544550-8876-4b71-ae4d-ffa604a405c7 CLINVAR:625287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d27f06-be70-4e3d-a987-f01d3eb20435 CLINVAR:553851 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ea0213e-1004-4149-a35f-d10737bff6ff CLINVAR:553851 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b87b1e5e-85da-485d-a7ce-d9dc3706a10c CLINVAR:102618 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c5dcf3a-8a47-40a1-afc4-fdbc0c1c7013 CLINVAR:102618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c5f406c-0347-4095-91e0-e03fcb51a7b1 CLINVAR:625291 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38c1e7a4-4bda-4176-acec-0b54143fb5c3 CLINVAR:625291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d27260ac-aea2-413e-9c79-d3980d69cd09 CLINVAR:120257 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79f3747b-b3df-45d5-85ba-43320c9ca25e CLINVAR:120257 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ef4682e-8b11-4000-a1e0-2315fe4c34fb CLINVAR:120261 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8f6f338-fe51-4d3d-a0e8-e7ebb2441db4 CLINVAR:120261 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0300f65-aa8b-4e12-9cc1-43a2cd987c0b CLINVAR:102921 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c191ba2-6a4f-4a86-a5ce-74784075dbb4 CLINVAR:102921 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edd9bd74-ae1b-485a-8b02-6ad222894580 CLINVAR:579 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37c704be-b404-4049-bc63-3a18d5d61c9d CLINVAR:579 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f7e6bb-f346-47b5-9483-9f77335d1508 CAID:CA16020912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 196794cd-3046-48c0-b9c3-c1f2d2cea1ac CAID:CA16020912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bbf0a9a-2646-4a26-8542-b6c259a5e250 CLINVAR:102491 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43f54b43-4de1-4a53-ac91-1a62e79d4738 CLINVAR:102491 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d80d3c2-b9a5-47ab-82c9-9cfcef43f0ce CLINVAR:102763 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2059aad-4f4b-401f-91eb-cc7adbf5f28d CLINVAR:102763 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22c0d993-fb37-4612-9e8c-3d6c9cd94a31 CLINVAR:614 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4027de3-3704-4f59-9401-1551de69871b CLINVAR:614 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad1c2f7-f70b-4846-a2e6-94769eef130c CLINVAR:625288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e5c4b66-70e2-4f02-9e2f-1897c2c11495 CLINVAR:625288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ca5f4c9-3b77-4016-a4f9-10c5388280e1 CLINVAR:635217 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e6b24b9-8c3a-434e-87b9-d03a8360d780 CLINVAR:635217 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 738c35f7-35c9-40c5-bc22-7307b02ac798 CAID:CA16020992 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56d4d18a-ad30-44bd-aa6e-ac523604823e CAID:CA16020992 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a8a937c-09fa-40b5-81c9-a5d4a9358e99 CLINVAR:449488 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e784ef6-f442-4269-adc7-2f5213c70ab9 CLINVAR:449488 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69955cb1-4368-41c1-ba40-12ec786cd906 CLINVAR:224749 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4336c1a1-c2c5-4949-bc11-a46949f32033 CLINVAR:224749 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d1463d4-f407-4ea4-af76-31cb10f83769 CLINVAR:102758 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef5c6d6f-8883-43ae-855a-feb6efbd9a09 CLINVAR:102758 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 481cc11a-b21b-43cb-a33b-17279728572a CAID:CA16020953 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7981c943-2a75-435f-a670-8f26a4106ac8 CAID:CA16020953 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 505ecc0e-7d26-4823-925d-5e928b99727e CAID:CA16020757 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44f4666b-588c-4f46-9701-0623ae31f7e5 CAID:CA16020757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d41f9f6-19d3-4d08-b23a-4c883d17c956 CLINVAR:102656 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f1a443e-f6d4-403d-83d5-3c77d778c719 CLINVAR:102656 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00d1fee3-3630-40fb-95db-32174127430f CLINVAR:665198 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82fa2194-6d7d-4b1d-89f7-c8b75ff483ad CLINVAR:665198 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74982488-392f-446b-bb6f-9c6ae8e142da CLINVAR:102806 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd02c9df-e9cb-4c2a-821f-8f9b22b36287 CLINVAR:102806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b70feefb-e08c-480b-b292-fd5d98717dd9 CLINVAR:102793 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce66e408-9fbe-46be-a7f2-2fcae869c0bf CLINVAR:102793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bf2b34f-af6c-4b1d-9efa-bd81e59b34cf CAID:CA16020859 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b711fd3-0bfb-467d-b3e1-70cb5082f86b CAID:CA16020859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c043067-ca1b-4545-92dc-5a0c517a2ef2 CLINVAR:102509 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9401ae0-eb0b-45b7-95b5-d431cba19633 CLINVAR:102509 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e10e34d9-ede1-43ea-8e30-b43839b8ff8b CAID:CA16020946 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e025d59-4184-45f5-96a8-495d22609874 CAID:CA16020946 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 082381c3-d3ed-4fa1-ad0d-1606f5536c53 CLINVAR:43325 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b94cdaf7-fa20-4468-a653-de1db139533a CLINVAR:43325 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 264131b9-9b8c-47f1-befb-2971788cb52c CAID:CA16020803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79a2a40f-9d2c-4894-8b37-1cc3241e1626 CAID:CA16020803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e5dcf6f-5a9c-4c95-83a3-35d3704716d0 CAID:CA16020971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9667c465-4b32-4a63-9681-22647b1531d6 CAID:CA16020971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39b1de33-f383-405e-979c-a1fa0aa8423d CLINVAR:102576 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d138cb60-200c-4e90-88f7-b70a48f28ddd CLINVAR:102576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad57b00e-2058-4d7e-b4e2-96814c9e29aa CLINVAR:102707 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2de2a231-8489-45be-9011-3d299a64d1a6 CLINVAR:102707 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a00312a-b777-4725-9e2a-909ae7bb204c CLINVAR:102535 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b12d390-44e8-43ca-97c9-b63bf5a9597b CLINVAR:102535 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e933c119-e265-4c6e-ad63-454d31b510e5 CLINVAR:283894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d56c6b45-c834-45cf-b9ff-83e61dae4c06 CLINVAR:283894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 477e9d0d-17dd-45c6-a859-27040e7c8d36 CLINVAR:556334 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47e55d41-851c-42da-ab19-f91cf1e0d19d CLINVAR:556334 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a399896-225c-42b6-97eb-8e649f3de57d CLINVAR:556881 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1df8151-7439-4774-85ad-3b3dada8a4a8 CLINVAR:556881 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21d384ef-9a02-4bd4-a400-2b7aa816c703 CLINVAR:196099 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ff1f598-dbba-489a-b7f9-5dc9a8932843 CLINVAR:196099 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79e99b75-5e3b-447e-8cb1-af916e1ce1b5 CLINVAR:44633 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9b7be65-b310-4131-9eed-d827e9d3363c CLINVAR:44633 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863469ee-5f29-41f2-b1e8-d4c211ad214a CLINVAR:438796 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cdf4b7c6-922f-4fae-8ced-5287e5417bf8 CLINVAR:438796 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d24c688-12e4-4d31-a34f-d299a01e2e16 CLINVAR:167260 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 754833f6-fdf5-4cb8-88ca-0010236bbe49 CLINVAR:167260 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6f94ef0-baaf-4a95-ad8e-122507f3f216 CLINVAR:375946 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f0b23e7-2864-426e-9566-37909cea74da CLINVAR:375946 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21b8b152-2cc5-4295-a3c3-ef5e7a109db0 CAID:CA6748704 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b336985-0639-4b97-84e0-af502b771a30 CAID:CA6748704 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a90cddb9-20ad-41c7-a69c-ebeddb31d6f2 CLINVAR:630 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 699214ce-2988-486d-b571-384dbdbdc1a7 CLINVAR:630 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4b6fa4c-d776-4115-a2b6-0409b8d0e5a3 CLINVAR:609 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29e3861b-a654-4097-8a78-45ed30333614 CLINVAR:609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22cc878b-1e2b-4562-91ff-7a9dec8c1fed CLINVAR:621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14192c21-536e-48cd-bd8a-30a2b12a552d CLINVAR:621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9157553-c0f3-4c99-a7ed-8a2bfb42a3e2 CLINVAR:224753 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a69cb6c2-02c5-4e2d-9d59-41b9f14b0d75 CLINVAR:224753 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5e12390-bb72-4903-be21-46dafe6ad9f1 CLINVAR:166479 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0640cee2-7c30-4d6b-a220-74eb083906fd CLINVAR:166479 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7feb8556-391b-4e3c-aa79-569ddc63da28 CLINVAR:178685 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d34a7bb-b014-4f58-9d40-5c64ffb8683e CLINVAR:178685 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 917e3e6f-26bf-45a2-bd93-87e76118972e CLINVAR:932902 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b77184f9-5aff-438c-8dab-1936b1ee9470 CLINVAR:932902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac97fca-5390-4451-adf8-2ce1bef1b865 CLINVAR:371235 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17d70591-08b9-47aa-b5c9-c2ce26a72263 CLINVAR:371235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 757dd393-d309-48a7-a01a-713c0ccdc309 CAID:CA294887189 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e4f7ca4-75b0-4836-a5ae-0685f7e10b3f CAID:CA294887189 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4915a603-2a0f-4600-ac52-82055e8a9338 CLINVAR:188841 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd2aa4df-6267-4327-b1e9-d4f230df51f6 CLINVAR:188841 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf1bcf22-26c9-4559-a7ff-ecd97a9557f7 CLINVAR:370651 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a40bbdb-e589-4525-8887-4dd1c5fb0232 CLINVAR:370651 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce9d8cd9-3f75-4d50-b2e6-b30a9474a6b7 CLINVAR:189065 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d57c8b36-e5d1-4d15-9092-2c0a9fdbf377 CLINVAR:189065 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b261218-5a45-4d3a-b99b-597886a0ed9f CLINVAR:550355 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e96fe5c3-7bd2-40ff-a370-99ca5db248e5 CLINVAR:550355 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb2c9cb-aa20-417e-9c42-f5434e7fd899 CLINVAR:578595 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be8d6978-8bd6-44a2-97a8-ffb449e845db CLINVAR:578595 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6eb1af3-c2a1-4af1-b660-52647f6cf5d9 CLINVAR:560377 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74a8fce5-192f-44ff-b1cb-e4228ef92cc1 CLINVAR:560377 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44458cc0-38cb-4c5d-a1b8-399c02b4150f CLINVAR:654482 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 039edf6c-5c1c-4b58-bc55-3b37f87269dc CLINVAR:654482 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e238b96b-f843-479f-a600-29add95c15ce CLINVAR:637958 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca96b6e3-d1dd-4ae5-949f-19a486618de4 CLINVAR:637958 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e0d364b-3868-41ba-a1f1-b9f60e43c7ca CLINVAR:188858 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9e250bf-bf88-4994-812d-558e1e6745fd CLINVAR:188858 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53f0c458-a359-4b2e-b314-3e0bc50fb10b CLINVAR:663894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d4cd440-0386-4674-9b88-5752dfe68be5 CLINVAR:663894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c92376e0-ac01-4a50-87d2-a989aaba71a2 CLINVAR:372968 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c0aec19-ef9d-4047-be1b-75857005a088 CLINVAR:372968 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd5dc537-73b4-4bd2-98f7-0aa9a7bc3ac7 CLINVAR:370268 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef25611b-dd3f-426d-a748-2a085c32f7ff CLINVAR:370268 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8de0f58-3761-412f-b1f5-295d99cd926c CLINVAR:649354 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 594bc728-1f3f-4c3f-bd5b-18d3c685f7fb CLINVAR:649354 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be7e5000-732e-4944-bc22-15219618cc6a CLINVAR:552368 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e99a948-7b43-41a3-ab90-0b79bd532a7b CLINVAR:552368 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 794d4697-4992-44bb-9ee0-2900bdab87e4 CLINVAR:92479 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30d1094c-753f-40ed-b00d-86acb9671cb3 CLINVAR:92479 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60181f71-dbc8-488f-a3e1-173a76cd7e57 CLINVAR:286229 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f869b3a-7861-4f87-8ed2-8bd82c47bdae CLINVAR:286229 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e92bdbc-c865-4760-a35d-3310da99ed87 CLINVAR:280063 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 088d04cd-2f24-43ee-b7fe-09c863a76a3d CLINVAR:280063 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 788ae34b-d3be-4d3a-b600-4f54ab1c82ee CLINVAR:370904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8504b40c-7b83-4100-9c83-eb225a5de37b CLINVAR:370904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bc29c80-c00b-4f08-abb3-77c2761770f3 CLINVAR:429727 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eef798c5-9b2d-4ec5-a39d-f988a20e6a4f CLINVAR:429727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e09d9d-4428-4287-bdfb-cf8a806c6d1e CLINVAR:4034 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13e8d776-a6f1-4343-8327-6eda646b0097 CLINVAR:4034 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d6d4018-0b70-46fd-b325-4aa677160635 CAID:CA8815306 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23997054-3175-4153-acbf-8b8fb4f32b6f CAID:CA8815306 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecff0d5a-c1ab-41b4-ad91-10adb1dfbe15 CLINVAR:556265 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a56a3e64-6f91-4eb6-8689-652e96dc4a2a CLINVAR:556265 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dd785dc-7ad3-44e2-b9c7-b18c44bbccad CAID:CA294896907 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93a01d5a-3dca-491d-8b03-e53cdb1df9f7 CAID:CA294896907 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93e68ca5-cdc2-4bf0-af08-9039e9e11566 CAID:CA913184909 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ccc57e3-9677-4ca8-b4ce-827be1c04f8c CAID:CA913184909 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8f49a40-98e3-4872-b263-c7ef037e4c1f CLINVAR:188728 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d8c3486-7265-4ef0-983d-4395d7ac2be6 CLINVAR:188728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20c79689-8161-418e-8279-797277b65e64 CLINVAR:426593 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c024e31f-0afa-4918-997a-0f100cc961d3 CLINVAR:426593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0618420-9560-4ce5-8c77-51e38c6269c2 CLINVAR:188797 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e5a6ffc-4e04-4e48-ae0a-e780a4af147b CLINVAR:188797 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f119582-101a-4dd3-b626-7f2b04cdbe99 CLINVAR:284093 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61ecb321-a683-411a-b88a-e0600dca6fbc CLINVAR:284093 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04922889-ff35-45e8-afc9-d9b2856bd3aa CLINVAR:379593 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24372555-7c97-4a19-98e2-01948648b2f9 CLINVAR:379593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c30961a8-9432-4f8c-9fbc-7e701d784412 CLINVAR:279811 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cac16727-791b-4768-aa39-261be0aedc79 CLINVAR:279811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59db3130-702f-4ec3-9241-2de90e816c89 CLINVAR:188902 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a6c3603-b8b1-45bb-9ebc-93e2d273cec7 CLINVAR:188902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae25e618-e4f8-4256-ab96-d73e94b72dd0 CLINVAR:188924 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec5ab9b4-e326-4ce2-8eef-fb74f08f5bc8 CLINVAR:188924 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f46c052-4f4b-40fc-8f48-3699c0b44d50 CAID:CA658795262 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cd8014b-9a07-4663-ac96-d67395e790c2 CAID:CA658795262 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fdfd0a0-dd8f-4d7a-9618-085c837aebf7 CAID:CA913187393 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bf4cbd0-fd5d-4c05-87d7-707ff5dde324 CAID:CA913187393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf79b914-a8b9-4632-be5a-8793639eb4f4 CLINVAR:188903 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e175c93-966c-4ad9-af81-cde0a8f16fd8 CLINVAR:188903 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2cc801e-cc30-4e99-95e2-37634134cfc2 CLINVAR:499380 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b118970-64ea-43a9-8525-2ed6baa33410 CLINVAR:499380 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12556d1d-ab0d-44c2-b02e-ff56773e10bb CLINVAR:189184 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen feea785a-23a3-4c75-b458-f09af703468a CLINVAR:189184 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93b903ab-d62e-457f-8e01-fd352e474e37 CLINVAR:189188 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5db3b40f-b935-4624-b8c4-70978d171a6c CLINVAR:189188 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b84f79b8-7a01-496b-8c4c-5e3b80d82e00 CLINVAR:102788 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6317a8ae-b3f3-423a-ae6b-984a030d4356 CLINVAR:102788 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88be82e8-da88-4e49-a6f2-9f762d4f573d CAID:CA16020973 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b40ff3c9-5305-4269-9a7d-4b365e431039 CAID:CA16020973 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8b23fce-f887-456c-b22a-56532a1b5c4b CLINVAR:102569 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1b40524-226c-4e6b-a908-61733e841660 CLINVAR:102569 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2263d69a-f46d-4d50-9f2e-cd21fad95bd1 CLINVAR:102759 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8bd8d3d1-e9f8-46db-bdee-4a7eabcfdb0a CLINVAR:102759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a884e7d-e19e-4e4c-9a0e-4e5982cff7d4 CLINVAR:102476 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 805684ab-96fd-4f08-9959-b86176e55e27 CLINVAR:102476 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86d58bf6-f607-47ee-ac57-d95189457b9c CLINVAR:561221 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6fe0a19-6611-47d5-8e35-36beebbac1ab CLINVAR:561221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f2f0e13-29dd-466c-b811-37b9a801cdad CLINVAR:561228 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f166a5b9-4eb5-43c7-b4ea-6e44d537f966 CLINVAR:561228 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2abf4699-9c3b-4a6f-94f8-df80fe7d9181 CLINVAR:561230 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 912c889f-dd8c-4dd7-894d-4f66d5a3a96c CLINVAR:561230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 267fa6cf-3713-4874-9b67-eb4dca25445f CLINVAR:561242 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 673d48a8-5b48-4855-ad79-c290cd5ea17b CLINVAR:561242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 046a0f1e-d79c-485d-ba53-d328bceb0a0b CLINVAR:642956 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen deb4b380-1389-4b86-8d41-339bc7bad656 CLINVAR:642956 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0cc4944-696b-43bb-98ec-aac441b807d3 CLINVAR:561255 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd7b19b6-74b7-4d26-9b49-6725c99bc54d CLINVAR:561255 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85f20449-063d-4bc3-a045-964fda4a8d62 CLINVAR:581331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3331bd30-7f48-4fd7-86ca-acd8f9c4a4e9 CLINVAR:581331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4bffedf-1925-4d04-a2a1-29059912ba7b CLINVAR:572808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3861862b-8be0-4137-96d6-d67e6bdfa1d6 CLINVAR:572808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcc5dddc-2e16-4f02-8df7-6da7a7dce70a CLINVAR:370276 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94735e00-6625-400f-8be8-7045a90c759b CLINVAR:370276 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc7d12ba-5272-47ee-9edd-e23713895a3d CLINVAR:188996 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 243ebaee-5950-492a-bd49-dcda5e2df31b CLINVAR:188996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d08c1e6a-7115-48f2-876e-81dd95a0b48c CLINVAR:553894 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e6714c5-1e5e-40eb-98e0-86f1fc7d341d CLINVAR:553894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f29dd42-af18-4e50-97e9-ae4b31b50fc3 CLINVAR:595469 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88de5b64-6f02-430d-8cbb-db4886a6a2e0 CLINVAR:595469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e9ab3f1-613a-466e-af5d-738b507ccdd0 CLINVAR:593486 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfed590e-9583-43ff-a3a3-5b917ed9f07c CLINVAR:593486 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf5499c-0815-48bd-8b0b-d5f791186433 CLINVAR:183727 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 389a4b26-f047-4070-a5a9-3652b802f031 CLINVAR:183727 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d870fb8d-ad8a-41f9-97bb-51a6550e0c2b CLINVAR:491537 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4b98a14-0731-49df-b253-f3e130df2660 CLINVAR:491537 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd1406d-e776-4e12-8ee3-299335874a91 CLINVAR:421431 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 529a39cd-55c2-4c1e-9eb4-c5c2fef1029d CLINVAR:421431 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 063ccf2b-cc56-466e-af05-11e96c7ed4b1 CLINVAR:406652 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 677efb31-bc7c-4fb0-8a77-881b65ee7596 CLINVAR:406652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 947bfe53-4c85-444b-a2aa-c12b1711b38e CLINVAR:449922 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55841226-64bc-41d9-96db-e8b8df033aa4 CLINVAR:449922 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 989fa8bf-62c2-4ac8-af9d-296e3efaeedb CLINVAR:532473 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56af4585-48e1-4004-8aab-bd2d29995f3e CLINVAR:532473 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfd9aa7f-410a-4d5e-bcab-17f003496b60 CLINVAR:428623 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a68b15a6-640e-427a-8ed1-51ff3ef5f1e4 CLINVAR:428623 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e46053-ac89-4358-9eca-9dc423ee8329 CLINVAR:186267 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18a74874-896b-4996-8b74-3f3661aa351e CLINVAR:186267 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ff06dc-2c7b-415d-89c4-cd5885bddd12 CLINVAR:545807 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0873a45-926b-45f5-aec9-f100f6899817 CLINVAR:545807 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfaa5e37-04d8-4b35-8d95-b01476ab96f6 CLINVAR:265543 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ccb7907-fa3d-4e0f-a2b9-81dcaca86bae CLINVAR:265543 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05ecc438-7410-4429-b404-e3c0ddfb8a53 CLINVAR:483271 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f48e345-14dc-463e-be7a-279c59101d76 CLINVAR:483271 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2480b1d-1890-4829-84d1-d0620161817e CLINVAR:485481 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66d0a196-ce90-496c-8254-cf20cfebfbd6 CLINVAR:485481 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 544180ab-d669-464b-8583-2833ca23b552 CLINVAR:428621 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8014805-7445-4f2b-a664-9db72ed72bd4 CLINVAR:428621 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17f51bd5-0a0a-4959-884e-28e06f59df08 CLINVAR:479518 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen baeccbf3-e95b-475f-8529-cb9ce3179de6 CLINVAR:479518 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3d21d5-77fc-4be8-9574-c4bfa60cac66 CLINVAR:265511 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0308b1e-ccd7-43f7-bbc6-a111789cd2c9 CLINVAR:265511 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b47024f-b7da-40f9-98e4-2ca48c75accd CLINVAR:216589 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef030c34-4e29-48e0-a53a-253f8e10e0f9 CLINVAR:216589 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 847247f8-63dd-47d0-b630-c88518da3d6f CLINVAR:142826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9ca0952-98c0-4221-af98-6baec8e056f4 CLINVAR:142826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b11a00f-5189-4fb1-8dd5-0c630c37fe4d CLINVAR:463735 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6fa40aa-153a-4a0e-b86a-e43729bed4d7 CLINVAR:463735 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92aa2b51-0db9-4bc8-9f1f-08c9940eeae2 CLINVAR:12237 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29d6de4f-8523-44d8-924d-9266a4cca18f CLINVAR:12237 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87094701-0d0b-403b-a6a1-3b14a6c160a3 CLINVAR:136065 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3160eb33-623e-4e1e-9327-1f82e0ce5238 CLINVAR:136065 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b131bb0-08ad-423e-a766-7d5d175deb54 CLINVAR:479524 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3bd4647-08b7-479f-8e1e-294dab00fb58 CLINVAR:479524 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcfb7ed0-2659-4059-8009-91965bba9c98 CLINVAR:423041 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3e4fd00-2339-43ab-bd19-dd8837e9fa83 CLINVAR:423041 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48321fd0-d5d0-4374-9bdd-65f325399f35 CLINVAR:406654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2032f51-9538-4f84-89cc-d57d211b786f CLINVAR:406654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c693e39-2674-4754-8662-c4cb4a2879f3 CLINVAR:481011 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7d0a513-be78-45a9-ac1e-f69952a6e5b7 CLINVAR:481011 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed2c7aa8-5bf6-4f2d-9ae8-bdb75bc65adb CLINVAR:428631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00b31d2c-655e-4ed4-8f3e-fdbac29df9d5 CLINVAR:428631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3b6e135-8a1f-4d72-8cde-707ace42323d CLINVAR:406633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 909b8e3e-0532-404b-9542-62b03fc10748 CLINVAR:406633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb2cc091-a531-4d90-ad5e-f5c2efe9af93 CLINVAR:418111 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21ad1df3-99a4-49a4-b25b-e96e0a6df508 CLINVAR:418111 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9696c9a-d41e-4733-a9bd-b63069314836 CLINVAR:428632 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 806588d7-d38c-49a6-914a-48c6e54bfcd0 CLINVAR:428632 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0068397-f2ea-41fb-ab4f-2c3b0799af32 CAID:CA16020723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6856fe9-39df-440d-ba0a-f6b19c48dc67 CAID:CA16020723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dacc053-cd0d-44cd-b7ce-0cccc505accd CLINVAR:102514 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3cc16a6-ba73-46f9-a797-d9e2e8421b3a CLINVAR:102514 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6489cd8c-78c6-459c-9d33-72d0897bb110 CLINVAR:21389 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b80b93e9-32c4-43fd-85ff-8d2303ec2fd6 CLINVAR:21389 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86bd9ace-bf3c-443c-b140-deafdc7464f8 CAID:CA16020867 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac623cbd-113b-412c-879e-bdc26a188a5f CAID:CA16020867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a461f332-3f39-4727-8b33-41812983359c CAID:CA16020880 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b80b10a-8559-4dba-9f3a-f18c7ec5cbf7 CAID:CA16020880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e46eaaad-cb31-46bc-91d6-f6fe779ca72c CAID:CA16020919 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75a41c2e-9f24-4aa7-9a99-fdb160d15476 CAID:CA16020919 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3980f4f-bd36-4c93-b7d8-f997063f847e CAID:CA16020945 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32c0584d-5ce8-4678-bc57-d7f6391af767 CAID:CA16020945 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dc93cde-1127-47d8-b88c-6fe43f21a50a CLINVAR:553594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02da4028-8d03-4fd8-9e81-6bd723c1e3ec CLINVAR:553594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e462f47-35b0-4d5d-beef-33ac0c0315b3 CLINVAR:164664 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d62c097e-45af-4a74-a22c-25c99b1ddd48 CLINVAR:164664 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21d98acd-ba62-4a09-8220-f9af88ad6d33 CLINVAR:561500 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d022d2e-0796-4c5d-8abf-f6b53a776886 CLINVAR:561500 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e2edb50-7112-4f39-b733-42a31ef8ee8e CLINVAR:40389 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd3e0b77-e0cb-416d-b66e-b7abc1a453f1 CLINVAR:40389 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e154086c-9247-4166-9b19-7a9a2120ea9b CLINVAR:44603 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49e8fff0-f2a6-4e7c-9870-6c42376cc6b8 CLINVAR:44603 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8b7a3d1-f2aa-49db-9baa-043d6bb0be12 CLINVAR:504514 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58e64cb2-ce1a-4f55-8421-bc11b5da2910 CLINVAR:504514 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7991f2b0-f970-4131-b07d-6905d48098d6 CAID:CA16020906 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dccf245-ba15-40cf-94d1-91d99c080e32 CAID:CA16020906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a4e3fd0-389f-4c93-b80f-468a6b4606d7 CAID:CA16020975 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14ccfa04-e6b5-4741-ab06-be3670f459be CAID:CA16020975 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 296a4ad7-cee5-447b-9cb3-04d16ee101a8 CLINVAR:626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff3cb8e9-eea6-49b1-bf8b-bcf625129350 CLINVAR:626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5e50b5a-80dc-4053-9683-7f4283271dfb CLINVAR:634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d34406e7-7919-4aa2-8cb7-dd3f2080c02c CLINVAR:634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e061785-bb49-4031-a942-68e715498bb1 CLINVAR:625289 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d271388b-3b2b-4921-a169-b6b825e30b91 CLINVAR:625289 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7767b015-d601-441d-8720-58f3271b1cf8 CLINVAR:626282 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e96a6a28-fbd8-44ab-9cf7-735877eeaeb1 CLINVAR:626282 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c23430dc-bbea-44fd-bede-38ba3c5317c5 CLINVAR:523937 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d53bee0-3c86-44e0-ac46-a0f5f3a28679 CLINVAR:523937 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac210531-ca1d-419e-abee-b363354a6c43 CLINVAR:429215 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 906bc7a4-69a3-43b1-8fb1-fab48f478930 CLINVAR:429215 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57e0e832-e7d4-4d09-a0da-13c8c7dc051d CLINVAR:188878 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36e5ae34-1491-44d1-aa24-c0f985e04ae9 CLINVAR:188878 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af40ab9a-e9db-4a88-b655-5edf4347084e CLINVAR:236537 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e361bf3d-9af7-4039-86a9-8bf5f1924397 CLINVAR:236537 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bf1b41c-1c36-430e-8744-0cd1b07a67bd CLINVAR:166488 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 739a1696-1d1c-47ee-b299-a5e76eaf9ee2 CLINVAR:166488 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8d2e30a-96b2-4a52-82d7-d02dbda6536b CLINVAR:120284 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf210125-a570-40bd-9d49-eaeadef03eed CLINVAR:120284 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f066212-ab51-46de-b06a-446ec9b387a8 CLINVAR:43298 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0dc35a24-f464-4ff6-b0b6-d58735fbb0b1 CLINVAR:43298 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d10e9653-bdf5-4326-ad8e-92f232579f9b CLINVAR:44731 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca1fbd89-b979-49de-8b4f-a0579fcd0641 CLINVAR:44731 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29ab60a9-15fb-4568-ac6d-d646e988b591 CLINVAR:44829 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1215d1c0-8e43-4fab-89f3-25990d89c7e2 CLINVAR:44829 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6a7879-c137-4f95-9114-32f240567559 CLINVAR:40367 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4baf134f-d2a4-442e-8078-df6430d6171e CLINVAR:40367 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d589658-fb50-4254-8ce8-08e2aedca8e4 CLINVAR:280446 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 502eeb10-7171-4783-845f-102cc49206d3 CLINVAR:280446 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92dc766f-b23e-4279-865b-85407a3f6818 CLINVAR:44832 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ee7528d-f6e1-4bf2-84cf-9b984a98f9e1 CLINVAR:44832 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 688caef5-6d4a-4de9-b10d-9205ac237aa4 CLINVAR:375981 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13e85eac-faf7-4f61-ab40-ab24985ba5ac CLINVAR:375981 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9350d1ef-0974-413c-aa37-f9bebd369450 CLINVAR:120263 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f61c83b-f241-4d08-91b7-8238c30dab77 CLINVAR:120263 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4de0d60b-dc01-4370-ae55-54890b4a59f0 CLINVAR:120262 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b03a3e38-917f-44ca-a5b4-01d68feddba0 CLINVAR:120262 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd70683c-4a8b-47ad-8708-1a719898317b CLINVAR:225375 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31f08676-09a2-49a8-9ba7-6bf2c2d9236a CLINVAR:225375 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0977d2e5-66dc-438e-b602-fa7185e12a03 CAID:CA16020976 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc649350-38a0-4ba1-838f-6ad26618c1df CAID:CA16020976 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26ecb0e0-0093-40cb-800e-21717aaa2691 CLINVAR:102572 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9af2931-a672-4bda-b3d0-ec5ce4abaa97 CLINVAR:102572 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e4caaf1-4d0d-4b41-88df-3e17b60638df CAID:CA16020780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a67fe458-a46b-492e-b0ff-1a5fa4153524 CAID:CA16020780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e83608ec-96bc-4c1b-b4a5-294d07a063db CAID:CA16020747 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2173816d-41b7-4649-8410-c62e053a52bd CAID:CA16020747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c079403-1a14-4b5a-b7a1-050479777d33 CLINVAR:92738 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f888eced-dc23-4ba6-b801-7cff2b8fd1cb CLINVAR:92738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 913e057f-e5f9-445d-a91d-67811904b215 CLINVAR:102743 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c81912bb-e3b6-43af-b0b0-8497a3fa4281 CLINVAR:102743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed50dabe-010f-4dc2-96be-7e6df8fe57d7 CLINVAR:102747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d34e229-bc85-47ba-af27-031ae835da06 CLINVAR:102747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba4047ad-13d2-4187-aa53-8ce6b52380f9 CLINVAR:102499 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfb6a661-632e-4ad1-99ee-602418e0e393 CLINVAR:102499 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a56213e9-020a-4afc-9ef3-9b85a781b7d4 CAID:CA16020894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 950af74d-aae9-4687-99c0-3ebaf3637eb7 CAID:CA16020894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02832dc4-ff86-480a-a276-3af1dedfddbd CAID:CA16020895 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42271ba5-a85b-4b3f-afe2-26accbe4d90f CAID:CA16020895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f106839-f731-42e8-83cf-ba2dbe3ce942 CAID:CA16020967 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a025f0c8-35b7-4a50-b786-efad36e4dbfc CAID:CA16020967 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62169eb2-b273-42fa-8e6d-305836bae11e CAID:CA16020808 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa770f16-a93c-4fbb-890e-3e4d1a3675d0 CAID:CA16020808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0870bd29-25a4-4486-b1dc-9b9e28fe4294 CLINVAR:120276 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af680922-6371-4995-93be-3bf8e680f648 CLINVAR:120276 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58be86f6-4a9f-415d-94b7-061d17ed4241 CLINVAR:102655 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cae6049-b3dd-4d24-b141-d790c410dda0 CLINVAR:102655 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27464011-3fe8-42bf-adca-e8ecb3e98b77 CLINVAR:102506 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c466fa3e-84b0-4737-9a00-8136f0c75107 CLINVAR:102506 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 985520e6-b733-446d-9563-27458e0d1280 CAID:CA16020925 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4346fc44-171f-4cd6-af89-e1861002a24f CAID:CA16020925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0015d00-9c51-431b-9d2d-051a98387e10 CAID:CA16020903 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58a55ce9-8710-4c5c-9998-7ecad09888e1 CAID:CA16020903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c47fa97b-8a3a-4e04-83ce-5927c7c1f3f8 CAID:CA16020911 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97971d02-f3c8-4b05-83b3-1cc2ad24834b CAID:CA16020911 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b48a100-ecab-484d-89af-39e35a02b63a CLINVAR:102731 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cb07661-46b6-4b07-a357-1fb23bd1f61e CLINVAR:102731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de9cfd4f-0cf2-499a-b98b-69fb951dca06 CLINVAR:102901 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56f9d227-6621-4fe6-9597-ec19acb5f78a CLINVAR:102901 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 301c9b11-0831-4d05-b370-28cdf48560cc CLINVAR:391813 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd9834c1-66e6-403e-9297-bcc62091e7dd CLINVAR:391813 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c024f99e-8d17-4f84-8f72-99b3dd96c181 CLINVAR:40674 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba5e2a4a-4c69-4db9-8c97-162f4c4a592a CLINVAR:40674 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2242b398-b208-435b-8a36-923038f7f75d CLINVAR:180851 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ed3eaa5-0609-47d1-8921-5f42bcb2f097 CLINVAR:180851 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dca6b97-f333-49ec-99fc-2efe3d1c8686 CLINVAR:561622 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d35f18e-14d4-45e9-a9b1-46eba5d6a141 CLINVAR:561622 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1a24f50-259c-4374-a28f-b611529a0cb8 CLINVAR:179760 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e2a1c40-ebfc-4a50-9e33-51d13ce5643e CLINVAR:179760 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8597f93c-f231-44af-a99d-d98e36c9a5c9 CLINVAR:45368 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b2ec2b4-1038-4675-96f7-bdb4ce80e292 CLINVAR:45368 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d352844-7573-45ff-99d6-b448fbdbaeaa CLINVAR:48409 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57b80883-75cb-418e-9b75-a50f9c295397 CLINVAR:48409 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a401bbc-6783-4ede-95b1-5b808f4de763 CLINVAR:449490 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ceb2d109-4ca8-4ef8-919c-aca5eb0fcd7b CLINVAR:449490 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd4fb9f7-645e-4d7d-a62b-00ddaf8cedd4 CLINVAR:178937 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fff459c-dee3-4c07-b57f-15d8be5d1797 CLINVAR:178937 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f28dd74-91d7-4211-8cbb-e62ce183f0f8 CLINVAR:102504 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4c69599-d364-4884-b545-84f0fb11b783 CLINVAR:102504 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54c92b35-0437-49c9-ac7e-0c36adfd2af9 CAID:CA16020988 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35ec0309-d0b2-4f25-9820-7e08a728cfc9 CAID:CA16020988 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98df5b02-250c-4021-af99-b7f789c72405 CLINVAR:427615 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd6b7905-940f-4388-a91b-bcf5220bf74b CLINVAR:427615 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6996fdd1-2642-46b6-8ed7-1a33943ff26e CLINVAR:498538 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6153b34-e18d-40e3-bcb8-0441111a8fe9 CLINVAR:498538 biolink:is_sequence_variant_of HGNC:11720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd9722b1-5cc1-4a7d-820b-71a7f7b3382d CLINVAR:561238 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8127eb01-81e9-4a2b-b68b-072dd8707182 CLINVAR:561238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f1b3aa6-ce06-4c90-9268-5d404451ad03 CLINVAR:561254 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e060bc10-9671-4ec6-8a50-d1277959da04 CLINVAR:561254 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f25880df-7d6c-4245-9a44-ca1764ef0b2d CLINVAR:633606 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b50bfda-7f46-4ddd-a74f-8e72170f7389 CLINVAR:633606 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd4313ef-2790-4d58-8d8c-c303e24c7f6d CLINVAR:12365 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33289669-5eb8-4155-9fb7-f94b1224dcd6 CLINVAR:12365 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11be50a8-f05b-4143-8da9-d3a315a7613c CLINVAR:638853 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63395861-35de-462a-a8d5-97c920f30f1a CLINVAR:638853 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1488bbc-55a3-4565-8c7a-ea2ad2f208a3 CLINVAR:567576 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96af1832-78ff-4a29-b0a7-d1fe1b07c4ae CLINVAR:567576 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbbb7f7a-cb02-435b-8c97-fe1770a84d96 CLINVAR:491536 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a9b8d53-722d-4363-99d2-e81fab57342f CLINVAR:491536 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd126ab-14ce-45f7-8979-e5d345ea21c3 CLINVAR:406631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e981331-2bc4-49a4-bd42-8b56cd32d556 CLINVAR:406631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea50474-e7ab-4319-bfd0-ad585ca33672 CLINVAR:439045 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b85cdc63-67b7-4a55-8e2b-f07e47bc9745 CLINVAR:439045 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9ae0da1-f649-4ff3-9417-889f64f88dfd CLINVAR:496817 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6e88edf-01ae-44e4-9832-6706af7cea7c CLINVAR:496817 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9bd6549-c0c3-42b6-8993-4543d6ebdd24 CLINVAR:622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ae001fa-9f47-4fa9-b66e-70a22f43ba97 CLINVAR:622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9626353-4c45-4882-8419-30c553b8cc19 CLINVAR:102834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29e7c50d-fb2e-4398-99b0-449eb65d0b8f CLINVAR:102834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd8b6fe-91df-4a4d-88ea-51c7c834cd40 CLINVAR:370074 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85872460-06ca-4413-8b5e-269c417d500f CLINVAR:370074 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbb5f396-f6e1-4fbc-a968-7e8b751b5b96 CLINVAR:555797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a03a9e4-5b77-4b48-b7e3-1304aa588037 CLINVAR:555797 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbcde410-fc4d-4681-954b-6c4e0720c47c CAID:CA16020996 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72ff6aef-f258-47ad-be8d-adcc4686734a CAID:CA16020996 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 712da732-ed4f-4ea8-8366-df6749954f6c CAID:CA16020997 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76424702-787b-4642-9ec4-2bd8ae001560 CAID:CA16020997 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 689acdd2-9048-4b39-aae0-cbcfdd946a24 CAID:CA16020991 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9d85c90-8b79-4c76-aafe-a475dd1e88ff CAID:CA16020991 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39a9e054-8dbb-4b87-9772-c1a76dbb5598 CLINVAR:578 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1cf0f47d-4aeb-4b2d-b46f-a0e4fd73ec84 CLINVAR:578 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7072c1b8-2f19-4a85-ae25-41a42a177965 CLINVAR:102609 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0dc0ee68-7ff1-46a8-be96-bf99c67667ae CLINVAR:102609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1050aa6-a747-415a-bf40-df57f51fcee3 CLINVAR:102846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81e6166d-f7d0-4bf8-b5fb-e65bb383f90e CLINVAR:102846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb205386-4e55-499c-a4a5-cde059dcb3ea CLINVAR:805828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d547371-e19f-4469-be41-ebff848e5d68 CLINVAR:805828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 126e0196-33c2-45ef-bd8b-8c49504b1ecc CLINVAR:188771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 673ba36e-c04e-4d7e-a30a-e4c8c9477831 CLINVAR:188771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64adce5f-75a6-448f-ad1f-a54853ad5df9 CAID:CA16020909 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b5722d3-fdc8-4d0c-9a64-926a64e9a4ef CAID:CA16020909 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce5272a7-200b-4f16-9bf5-ff2a862b16d1 CLINVAR:842394 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a26bd83f-911b-4186-9b0f-7a43234d540d CLINVAR:842394 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35f0012e-97b6-4fb8-bbf8-0d03a5e3e192 CLINVAR:635216 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1f661c0-d176-4de9-99d8-ed75f88a4efb CLINVAR:635216 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 144caf24-c913-4902-ae14-6cb1d8c3f68f CLINVAR:102642 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4bfa364-fdd9-4967-8745-b5a284915b83 CLINVAR:102642 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fac6180-79c8-4410-8aa9-0ce538048417 CLINVAR:120298 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79cd3890-893c-4c5f-af6c-dba3c2dfd918 CLINVAR:120298 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bcd5c4a-ebb1-43ed-81b4-bed228e9d1d7 CAID:CA16020910 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10738d18-3358-45f1-8d8c-a4681f60b370 CAID:CA16020910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 397769b2-ee8f-4f5c-a5db-445ca05a49c9 CLINVAR:805827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f47ff862-44db-4078-ab0f-5b834830a1ba CLINVAR:805827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 955498b6-d8cb-450e-aa09-c64bb2e653bc CLINVAR:102671 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7211c7f3-3039-47e7-870a-2eec5d8d151c CLINVAR:102671 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 041fbd7a-52a0-4f7a-aec7-e33cd35b2058 CLINVAR:120272 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48aceee8-c4e1-4cba-8cc7-fb6013fd3310 CLINVAR:120272 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 287d2edb-46d1-4c6d-b846-e9b69fb39d5e CLINVAR:372656 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4af325f9-8f06-4e46-8be7-7dabc9ae3ba6 CLINVAR:372656 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd3b7097-5441-4f84-99ac-11bfc60fdb1a CLINVAR:40681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e44f5fbf-9d20-4de0-a58a-f8581da640b4 CLINVAR:40681 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4611f9be-51b8-42d7-84f1-852229c267c2 CLINVAR:12872 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53ab041c-f6f8-4f44-9ef8-70d55575db38 CLINVAR:12872 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a3b4b28-f293-4aa4-9777-5112f685f8c7 CLINVAR:40684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be78ffcf-addb-4645-a866-7ab69a5407bc CLINVAR:40684 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a860b23-3626-4fa3-bbf1-b070f102da2a CLINVAR:40682 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ea8f83f-a46f-4f4c-96cb-5d53e98dc591 CLINVAR:40682 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecf9b5b0-9156-437b-8a8f-de0b13fd0a7b CLINVAR:40683 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3b61770-8ae2-4b7d-959a-f4c8423fcca3 CLINVAR:40683 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 567e478e-0402-4dc9-9ff7-3d3b2a5bbbea CLINVAR:189041 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e90daeb7-8e28-4b84-be39-63edd836184d CLINVAR:189041 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a3e83ca-3526-4163-93f7-e008273064bb CLINVAR:167113 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2b6c0fb-ece0-49c7-90ec-78ba15d5ffdd CLINVAR:167113 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d41de277-40a6-490f-b5b9-646003c98a10 CLINVAR:127823 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 499c1c7e-add6-46fe-b181-c716f0ca024c CLINVAR:127823 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af528a01-a029-447d-88a5-2892b3b6dc78 CLINVAR:230764 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 204afcbe-9e26-46cd-a893-7694fad39bce CLINVAR:230764 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1a541a1-bad8-4a9f-ac47-37bd5a37c176 CLINVAR:245851 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09f0bad3-de4c-4f57-8ad2-cf3cf3d80112 CLINVAR:245851 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c48d78e-3ec6-4ea0-8b90-ee3e2f81af89 CLINVAR:246429 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 797b1ba6-c2d0-40a2-a657-ca00053d7dc6 CLINVAR:246429 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99f3b8de-bd0c-4396-bc42-23ec77285762 CLINVAR:376624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen feb7a802-56f2-4fd4-a92a-020cbef49c2a CLINVAR:376624 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 983798c7-e59c-48b9-b2bb-5da8f33fb635 CAID:CA16020955 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d169d05-2bbc-4dee-ac2e-303131bd7f3a CAID:CA16020955 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5a6d8a8-ebb2-4ea0-8e3a-102f20d8a0f8 CLINVAR:4842 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17d1936f-721f-445f-b948-c1c52271ada7 CLINVAR:4842 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfd4d4c8-03fe-4207-a13c-31189c1a15d0 CLINVAR:102918 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c494d791-83c6-4903-8157-bc59e61ebcbf CLINVAR:102918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd21f899-8a04-4eb4-8abc-b1feb91d1471 CLINVAR:102566 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 454e5f11-4b5c-4656-beb2-8b0f9506b83e CLINVAR:102566 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a607e8-79cc-462b-b1ec-ea4172688b35 CLINVAR:987756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fdc2670-8f57-430c-a488-0fd19068a094 CLINVAR:987756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa2c5c2-2e70-42da-aa52-c2b1568970f6 CLINVAR:987755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52baa4d2-433e-4b01-a3a1-c095f702f77f CLINVAR:987755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e92ecc0-4739-44bb-bbeb-3fdefa2b7f83 CLINVAR:102544 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0e29ef5-af65-45b2-89a3-71795fc9e5c9 CLINVAR:102544 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c9be828-9fab-4892-82dd-e0967cea8695 CLINVAR:102560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07e04778-1928-49dd-9698-0be852a5bf7e CLINVAR:102560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f0f179-a2aa-4044-881f-3efaa0745b68 CLINVAR:102550 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0030bab1-1005-41a8-a71b-3e95134375fe CLINVAR:102550 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a8d1d2-4022-4053-8ad2-e94c2179f147 CLINVAR:987910 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d621f76d-7745-4fb8-8ad9-df77876864dd CLINVAR:987910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a97d5e8-a375-4941-8d14-c13678980b0f CLINVAR:102714 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f545704-96ad-48a9-b65f-db33c9c724e4 CLINVAR:102714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 752c7d74-f928-491c-a3ba-05eab59da21f CAID:CA16020875 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91c1a3a6-4c1c-4c1b-a627-5eb9463f1b53 CAID:CA16020875 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa6afa4-d7ec-4968-af3a-722256401dd2 CLINVAR:574672 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 518741b1-d353-4ca4-a574-356dc47d9ebb CLINVAR:574672 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4634ecc-81b9-4541-8ea3-86fe03bb94ff CLINVAR:428622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d92d68dc-f13c-450e-be4a-b1c9444ef057 CLINVAR:428622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d96c0984-f827-44a7-830b-11e35d5d30ea CLINVAR:265635 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bde10515-288d-4db3-af42-5ad0d0e66768 CLINVAR:265635 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e0de103-e17f-4f54-b88d-52941014dbca CLINVAR:439040 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ff64c9b-f8c6-4e9b-8408-38c4d2891015 CLINVAR:439040 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 470580f7-1024-4b91-bb1d-392fd558a6b9 CLINVAR:428633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85768289-6375-4f53-bc70-caa2da06eb6a CLINVAR:428633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e4ca78b-0e33-47a9-b426-7d5eb8351500 CLINVAR:491497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad6a6a2a-a3e5-4d24-89ea-c3447862d832 CLINVAR:491497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e38c9816-53e6-4265-8d40-ee42846e9191 CLINVAR:422539 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a525d071-2641-473c-85aa-469275fa52c8 CLINVAR:422539 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f089972a-30b9-448b-baac-39aa87706d2f CLINVAR:449339 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8bbcfeb9-5ff1-4356-9498-9df4b69074b0 CLINVAR:449339 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d12f93c2-0329-45ad-8ad6-a56128c5c5e9 CLINVAR:545756 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc46468e-74ad-4c21-8249-f119ddc21530 CLINVAR:545756 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9a5fc92-fb20-4d42-9bad-78fe4e4ecdd5 CLINVAR:234610 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a1daf3e-3030-4a26-8880-ee2dfb86b0df CLINVAR:234610 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae1f7044-0e1f-4b8e-baea-957e9d316cce CLINVAR:532477 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8af1d761-5780-4ebd-9375-789245f14276 CLINVAR:532477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74250321-1294-409c-93e5-7be03df328c3 CLINVAR:182376 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddb122fe-a7b0-4159-99e6-c451dd7140f0 CLINVAR:182376 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 529c8783-627d-401c-b38b-31b14997cd5f CLINVAR:185252 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92a030c3-1389-4eed-866b-ee59a0c5a511 CLINVAR:185252 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3eca977-6bb7-4acd-9da5-5005961acc4c CLINVAR:140781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29d3761a-5a84-4c85-b6e9-ef888394ee94 CLINVAR:140781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a7c5928-4b07-498f-a854-a05687d92e7a CLINVAR:420613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f516a6f-3d28-4905-b1de-521221d166c9 CLINVAR:420613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f318ee02-ddd3-4c9f-9194-9b53c082b832 CLINVAR:532441 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9af7019e-9851-4e81-bbaf-94554bfd10ef CLINVAR:532441 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5654f5a-b90c-4697-b8a9-3c39a75d595c CLINVAR:406676 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0927e604-2221-4e80-aa98-437a587bab68 CLINVAR:406676 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18b382c-6fb3-4ae5-8d56-eebeaa08191b CLINVAR:428624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a16c49b0-33bf-4f29-87d8-5b599a9fbb92 CLINVAR:428624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 380db02f-64a1-40a2-9325-c6fe8b9d8442 CLINVAR:496818 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2df33f43-4ba1-44bf-983f-c7fc349e02c9 CLINVAR:496818 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1672edb-dc02-4007-ba00-4398f233818d CLINVAR:421050 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b40b27ce-ddab-4026-a184-42d4d4c2e3f3 CLINVAR:421050 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 983a0708-9740-43f2-8d26-fd5697b510b1 CLINVAR:485476 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 143c2b80-ec1f-4359-8b55-acc44be70607 CLINVAR:485476 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6fdad0e-9b15-493d-a518-bf6724983e35 CLINVAR:234812 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 002123fb-a664-4cea-b389-21355321aa8c CLINVAR:234812 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d4719cc-0237-4436-ac51-c41d86ee8304 CLINVAR:230175 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2ba4362-990c-436f-b477-594f4f098183 CLINVAR:230175 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f43f3d4-0a51-474c-a5c4-6de6addccf5a CLINVAR:488647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0369b3c9-acc9-4de6-b2ba-946c1034a8c1 CLINVAR:488647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 325c8948-5eb7-491b-a971-37535b1ad5d7 CLINVAR:406615 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90fbcff7-64d6-4e5b-ab5b-d861e3fcf74d CLINVAR:406615 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7fcb3f9-6f6d-47f6-8ddd-db275d819eb4 CLINVAR:481173 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5a9458a-2e68-4eb6-9000-15e0a6b4ec36 CLINVAR:481173 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5274294d-1203-48f2-b496-1e138526513d CLINVAR:234904 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17c45325-d950-444b-8e1f-3f9b7d908d1f CLINVAR:234904 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b95adfe8-7ada-4e3b-b07e-3a2dc370ba3b CLINVAR:981224 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 386f6ff2-d257-4f8c-842a-e3e1d7903b58 CLINVAR:981224 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fce068f-caa9-4646-bb30-df5e96fe152d CLINVAR:46076 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c3d0de9-4ee3-460b-b29e-6dd50caedc6f CLINVAR:46076 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8cdc399-a2ec-4a1e-832e-1005c92ade45 CLINVAR:102669 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f00ca271-327c-45d8-8dbb-82ab4c96258b CLINVAR:102669 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa6ded07-81bd-49d6-b8a4-576857a2a297 CLINVAR:554011 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e87070c9-f30c-49fb-ae67-e3cb725880e1 CLINVAR:554011 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 838ff73e-4538-479a-af8a-31ccf462b172 CLINVAR:102724 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81c5ee61-3cdd-4cee-9d0e-b2e3395f559e CLINVAR:102724 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3639b303-2bc7-44f9-a0d8-21bc0154bce4 CAID:CA386299637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce6e5f2a-91f2-47e9-9e97-66d0fd581240 CAID:CA386299637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbc24c0a-90e4-4ddb-96a9-e0c0c6c01d85 CAID:CA386295265 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da2f4dd9-ef62-42ea-8988-3604dddd2e79 CAID:CA386295265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85691437-f264-4fe9-a61c-d6dfe8239765 CAID:CA1139532470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e35d56ee-61d3-46a8-911a-9c0fc990cd77 CAID:CA1139532470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48ff4e7a-f8e5-45a6-b211-b15d1d925814 CAID:CA16020841 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f15a9427-6a73-4859-9283-c1a1d72af9a3 CAID:CA16020841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03a41e74-11d1-44f8-8282-103c679b1d36 CAID:CA16020766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c686bbe-228b-452c-8fa4-7268896b9f59 CAID:CA16020766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c31421a4-033e-4e49-b9e9-053fa330df78 CLINVAR:102733 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e8494cd-e79a-4db9-9843-a44ed714ee93 CLINVAR:102733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6dd7533-17c2-4162-8598-d9e14a39069d CAID:CA16020829 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26599e1e-0d09-4b68-996c-4c5f2b5d7537 CAID:CA16020829 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68bc1512-147d-4c82-8436-f44b926a8b5e CLINVAR:102556 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9683aa7e-2943-42e3-9689-769299a580eb CLINVAR:102556 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b902b0b2-3d3a-48f6-9e32-d96e0f1b7a56 CAID:CA16020787 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63a210ba-d95d-47da-a387-9300aff1d4c1 CAID:CA16020787 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96c8df11-cca1-4912-9354-7b45feef8e96 CLINVAR:92730 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21c0c0ca-4020-4490-92a9-570716d0a614 CLINVAR:92730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7434ffdc-9887-4d23-a889-6d181df01701 CAID:CA386304277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b755ed8-8c94-4ed6-bbb6-766ee817e9bb CAID:CA386304277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 647c6d2d-b2b4-4404-bfaa-02d4e19f2a66 CAID:CA386295865 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22354a89-79b4-43f1-8667-696241212e46 CAID:CA386295865 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e14a8948-b2d0-4cab-aaf9-cfe506bf1686 CAID:CA6748922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46f67167-ed53-4c45-b99a-735165b0d9b9 CAID:CA6748922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a36a112-7837-42ba-bef1-e70413b07286 CAID:CA1139532533 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 419f15d9-6c65-4917-b9d8-62b905c5ed5c CAID:CA1139532533 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca2cda9-f7f5-482c-972a-984cfc005825 CAID:CA16020961 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58254681-db94-477f-bc16-1739dbdd9f10 CAID:CA16020961 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b751573-fd10-486a-a78c-a2285f9d9dfb CAID:CA1139532543 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a67e1e21-8b55-4fb9-ad04-0abe78d0d2dc CAID:CA1139532543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c917e8b-1f98-4347-99ca-780737e4ba85 CLINVAR:102541 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff426a26-217a-4147-8800-e5ada08d261a CLINVAR:102541 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00178705-748a-4850-8e75-d4b10d70621a CLINVAR:458082 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f343e0f3-1047-4108-9f20-5017aff9e67f CLINVAR:458082 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 208a4411-8c77-4973-93a1-7131bdd96876 CAID:CA386304179 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8ad75e3-0f44-4ea8-93fc-d7ccbf9a7c42 CAID:CA386304179 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82d4c9d1-051d-4942-b81d-aa8d57ba7487 CAID:CA1139532534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fe9c055-19cb-45d5-92d0-a2d0f8100d23 CAID:CA1139532534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d7291e4-ee7a-4c15-890f-71e5cc7b2409 CAID:CA481332664 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fe8a088-ec1f-448f-b581-3493470ecdd6 CAID:CA481332664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23428824-d13d-48c8-bea9-a6d6f6032935 CAID:CA481333203 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3dd38fc0-6c95-4af3-b544-81c1b49bda83 CAID:CA481333203 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdbeacce-94ec-45c7-95e6-6898e2ffb7d5 CLINVAR:571388 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e940a5d-413a-466c-a4df-f8a4bb7266b9 CLINVAR:571388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 798ce7c5-7b22-4e63-a9d3-91861b50d4bf CLINVAR:552279 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3a1b76a-ea83-4342-a8f2-aac998522659 CLINVAR:552279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e74391e0-c4e9-4d2b-ba2c-3275ead70abc CAID:CA1139532590 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a54b8c1-9b7d-404e-8799-c2cac4dff089 CAID:CA1139532590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dad87f2-b00b-4881-ac3b-84b3e835e445 CLINVAR:631 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77db0f21-3b46-4e2c-a2c8-48ce71ac58fa CLINVAR:631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9948233-167f-4b68-b44a-a9a20ab22c94 CLINVAR:555138 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3edff169-f239-4dc6-9ec5-4d3f984a209e CLINVAR:555138 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f5b6fc2-e562-410a-8a89-acef882b84b7 CLINVAR:102638 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f83bb7e-38d0-4842-af5b-51556538d81c CLINVAR:102638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54817a5-e3d4-4d44-85db-31b65e0826bf CLINVAR:102756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80414c71-7725-4206-b207-8f85e0185605 CLINVAR:102756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40a766c2-329d-4da3-a92e-41819ff0f8d6 CLINVAR:102800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen add26dc0-90bd-403c-ba5a-30779ea6247c CLINVAR:102800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c744b96-be3e-4801-8bc8-d0a7316f754a CLINVAR:102796 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8df1cdbe-2c3b-4e93-9781-d6ee0b7507aa CLINVAR:102796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e763895-428d-457f-b488-4babbc118958 CAID:CA16020786 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d99cb58-80b0-4c20-92f4-20243e030ec0 CAID:CA16020786 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1cb0192-cd29-4885-a590-3f17dfd6084f CLINVAR:551658 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6ef8cb8-437d-4eaf-9664-8019674e3811 CLINVAR:551658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aa59a91-de64-40f6-a10d-4f819be27b2c CLINVAR:987913 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99dfb44c-36cc-44b2-90c1-922729895485 CLINVAR:987913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d9d1de-dd71-415e-b0d6-1e0e32eaee05 CLINVAR:102543 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9135192-eb16-4e07-a691-177f6f646a8e CLINVAR:102543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7978702-d226-4271-8139-538b852cb2e3 CLINVAR:102542 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93ed532b-8b2f-4d0f-813b-e1530c7c2a9f CLINVAR:102542 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbb61b54-d2f9-406e-a1cc-b9a9ffdcfd68 CLINVAR:102530 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b0eda8d-12d1-4312-85ed-2b8aba34eff4 CLINVAR:102530 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b222d83d-8d4c-43ec-a1cc-32caa3db541a CLINVAR:102621 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a957135b-33fc-4366-a3df-e47ba5c72a4d CLINVAR:102621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aa577ad-91a6-4aa5-b0e2-d6030f56ab92 CLINVAR:102489 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec53c262-0099-4eda-a1e9-7a01d3293142 CLINVAR:102489 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd0d6f8b-9d1d-4f89-8bbe-7b58ca9e1296 CLINVAR:102734 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ace607ec-c5a8-4783-b83b-8a1b246d8c70 CLINVAR:102734 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 001d961c-f46f-4938-9aea-f032e78829cb CAID:CA16020815 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4619929f-9587-47b0-927e-f07677e3316d CAID:CA16020815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3249239b-48b9-4577-bfef-69ec65c1fcfb CLINVAR:102741 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbc1c38b-79b9-44bf-a677-a3c6c170e2af CLINVAR:102741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6508aebf-1754-4bc9-85e9-a56440ad7f09 CAID:CA16020821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 494b545d-bcf8-4c41-b1cf-8c3c12477390 CAID:CA16020821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b75ca4e-c3ae-4cb3-9e6e-7fc3d3095d83 CLINVAR:102769 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14cdacf6-f35b-4996-b5f5-26d2aa9935b8 CLINVAR:102769 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27e7cc0f-7e80-467a-a831-ef7151d72072 CAID:CA16020838 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49302d39-1b04-467e-8113-f803cf7ba50f CAID:CA16020838 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 594a3d83-d494-4f70-b6c0-0a5a80e6cc9f CLINVAR:4929 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cbac56e-4dca-4ae4-9d55-6e8264577681 CLINVAR:4929 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cc8a804-b0e2-4b4a-bc78-e291bd751396 CLINVAR:43230 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b015105-e744-4f66-8803-bb760d6c0f82 CLINVAR:43230 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ac27b0-20a7-41ae-bb61-4335daf905e6 CLINVAR:984798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e781c5c8-a0b1-4b1a-9813-1f6f51829dbf CLINVAR:984798 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37347681-8abd-498b-bf84-11da6edfa9fe CLINVAR:984802 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c538398-771d-48fb-9cec-35ac12ab94b7 CLINVAR:984802 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91c7a3df-3f65-47b8-945b-60e8ce626e20 CAID:CA658795253 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14ae34c7-428b-45da-b939-c40cdb2dbc46 CAID:CA658795253 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26815204-df13-426f-8adf-35cafc188a14 CLINVAR:557360 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63ddd572-706d-4a76-8382-596964b173c5 CLINVAR:557360 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72a8dcf2-120b-455c-9379-a9145e3a1bc7 CLINVAR:984800 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abd2e98b-49a8-4519-abd8-1b0a96151260 CLINVAR:984800 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a06ae70-9078-4d08-ab66-294b1101882a CLINVAR:371302 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 549a920c-3650-4fcd-a166-df0096670b97 CLINVAR:371302 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1b8769e-721e-45fc-9bfd-c7b6675f4546 CAID:CA401363371 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c73f349-69db-47a1-8f91-79b01906df76 CAID:CA401363371 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de434602-6f94-4283-b0c7-561d23da3c8b CLINVAR:972762 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d49116c8-e398-4ca0-af67-07e5889ba5b1 CLINVAR:972762 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee5196e9-0727-409f-a045-50d7bec12a20 CLINVAR:552839 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01702628-824f-4187-a858-401930d6e42b CLINVAR:552839 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25f30a3a-12c9-4e09-902c-5907f7b3ce4d CLINVAR:423925 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 761a9332-30d5-42a2-959d-8ee23a15c684 CLINVAR:423925 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35a4b4d2-bbfe-44e4-a7f8-bb0869711bc9 CLINVAR:370241 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ee0b606-d6b7-4586-8072-c1fb0c35862b CLINVAR:370241 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b402d36-0a5a-4cb7-832f-e9e96174051f CLINVAR:456415 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09a660e0-7c9f-4bd4-b869-ddbdf9f137fa CLINVAR:456415 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ba32c95-7950-4f9a-968f-ccb4f6e1cfa5 CLINVAR:555040 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11fdc3cc-e606-4add-9160-89214fcc3d23 CLINVAR:555040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9c5393e-f2b3-4ede-935e-bc7f3141ee58 CLINVAR:370458 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7670d6a2-4490-4b31-b116-cf16753fd870 CLINVAR:370458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 276c98e0-eba5-494a-8fd2-d613a874d0d4 CLINVAR:526523 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 775891cd-0383-40b7-afcf-b3a440db3c74 CLINVAR:526523 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd1f5aa-b2fb-4c76-9934-a4c89bca62bf CLINVAR:371580 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d92c427-f526-41f6-8cb6-4fe864ad2824 CLINVAR:371580 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cf094dd-f26c-4981-9d0e-0454d5f156f9 CLINVAR:551530 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62d58dcd-6858-447c-a5e5-1e57442aeab7 CLINVAR:551530 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa51bdf6-2199-42e8-8673-53066f0d60d1 CLINVAR:371501 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5565f9b8-147b-43c9-bd06-da099da49d6d CLINVAR:371501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 624c4a86-6bf1-4c4d-87de-d275ae3607ac CLINVAR:596146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18185f21-274b-4a16-b9f2-f8cffb99f20e CLINVAR:596146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6750b102-a2f0-4c8b-8909-66f574fa330b CLINVAR:189057 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f12e7d1c-b405-474e-8ab7-28c3066c5ce8 CLINVAR:189057 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42462549-189f-4089-bf7e-aefd2eb938f3 CLINVAR:553981 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 334ef273-25b7-4267-9eb8-a7d7523b096d CLINVAR:553981 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e029433-07b9-4e4c-a56d-d55add8a53ca CLINVAR:550104 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b28a29c-2f60-46e7-97a7-2102d71fb24e CLINVAR:550104 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 727e70e2-82db-4494-a31d-452c792cbaae CLINVAR:188880 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d13d8f4b-a6e2-4b98-b431-ee953df4aac9 CLINVAR:188880 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b57cdc57-53dc-4983-ada8-d413c45a866e CLINVAR:556534 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abcff622-d9c8-46da-aabb-1290e0c8d05f CLINVAR:556534 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f871f8a6-a59f-4504-83ff-f406a247f7d0 CLINVAR:656144 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f94290a-4b46-467a-a52e-ef93f00327d5 CLINVAR:656144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2eb7662-51d7-4003-9f35-96520f1c0eeb CLINVAR:282254 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c8d49de-3301-41ec-84f0-7c4c48b9e4c9 CLINVAR:282254 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc45eb52-b503-4e38-9c2b-32b308609239 CLINVAR:597147 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b7ba084-cf8b-4d4e-b250-459dc4d5f8f9 CLINVAR:597147 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73ffa77e-5cf2-4e03-bdad-1a207f18626d CLINVAR:370810 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9136414-2e2d-412e-bde0-51ae2652922a CLINVAR:370810 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 570ea39f-f5d2-4b2c-966a-11de81764cb9 CLINVAR:497032 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c8656a4-84a5-4b94-9ed3-f644d9d165bb CLINVAR:497032 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b018aed3-de48-453d-a86a-ce328545c816 CLINVAR:370263 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddf87433-1f28-464b-b3dc-e96f8862dad2 CLINVAR:370263 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d50628-7da5-4380-8a6e-3182d9f10497 CLINVAR:501294 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b6eecf5-b90d-4632-9f28-d3c92d11a473 CLINVAR:501294 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 541854d9-dc7c-4377-8ad3-25e76fcbfa47 CLINVAR:4033 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d7ff3be-2c3b-48d0-8706-77c56489258a CLINVAR:4033 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6eeaa61-bd12-458b-9924-3c04ad2e28b3 CLINVAR:370510 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2fd31918-c294-43f7-9196-c74b41554fc6 CLINVAR:370510 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dcba5ed-e48e-47a5-8939-14709fdb9fcf CLINVAR:371457 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1110c892-8aca-4ae5-baba-5de2221df73e CLINVAR:371457 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63f4a78c-fff3-4abe-9de5-897153b1f437 CLINVAR:552165 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df20b816-ec7e-4cb7-98aa-f9a0bbaf7986 CLINVAR:552165 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 015b38a7-e8f3-440c-afb1-ed3641f2e979 CLINVAR:420101 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c33b60a-fa96-4a45-bc98-0f136cecbf28 CLINVAR:420101 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b80c05b5-dda6-490b-9152-40666fdd1b8a CLINVAR:556959 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da14a1e6-d500-4e78-98af-0abe620498ea CLINVAR:556959 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 868bb241-f8d9-4c77-896a-e324e5cae664 CLINVAR:370223 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 369996b7-4256-4e7b-91c5-25cb392fe611 CLINVAR:370223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cf71baf-8eb7-45b3-8c41-cb485a298e29 CLINVAR:556853 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c471670d-ea0a-41f0-ac4a-b83fac038a5f CLINVAR:556853 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49b4e190-f403-47ad-ba95-2b7c312e69bd CLINVAR:188874 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a856b810-5e8b-4bc8-a87a-ce8a6975fde7 CLINVAR:188874 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9047904b-4389-4f7e-ade4-00b4bdddead5 CLINVAR:694453 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e188e693-6b7e-46d5-a51d-4d25374779d2 CLINVAR:694453 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d0354d5-0c37-480d-bfd9-3bd0796b2684 CLINVAR:371433 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88e47363-3b88-4ec8-9680-6bd99c2462d6 CLINVAR:371433 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaf29739-aa7b-4be8-b92f-c8e6444e5769 CLINVAR:520974 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efdf0f60-c5d5-44f8-9e73-2e28cc2f4490 CLINVAR:520974 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a9231c0-00f6-4cb7-ba36-637362dde308 CLINVAR:370866 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c15f86e8-85d2-4d46-830e-38492a3d7e1f CLINVAR:370866 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38419768-26a9-4c18-8cc5-abdef627acd5 CLINVAR:693996 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f7bd17b-c47a-4407-bcf2-175863b87c30 CLINVAR:693996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a7a196b-7a26-4617-9d6f-b99fc854ece3 CLINVAR:632822 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c483bc0e-583b-4a77-9c26-2277c1bacb3d CLINVAR:632822 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 172b324a-07ea-47e1-a66b-5ac39bb3a3ae CLINVAR:633225 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfa919c5-2f6b-4c26-a856-677161130d7f CLINVAR:633225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f31013-9b1e-40ff-a76f-ed66978d4838 CLINVAR:423932 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9363975-979b-4532-b0a1-b857d0d2a0f3 CLINVAR:423932 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bd99e82-a143-440c-9b91-418b87255048 CLINVAR:802700 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fde4e815-66b0-49c7-a92d-9ffce2f092c9 CLINVAR:802700 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8155b564-17ac-4adc-ae05-9fc33b054384 CLINVAR:179260 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0321cd90-e25e-4f73-94a0-f432075aac1c CLINVAR:179260 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf3ad3be-ed9e-4720-836a-9c977fb22a9d CAID:CA1139533052 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d64432b6-9f48-4e3d-997c-02e9970def77 CAID:CA1139533052 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f914712-e555-4ab8-9f74-aaf3ee69d48b CLINVAR:561252 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c24a69d5-2634-4125-9fa1-f2659a0d1d7c CLINVAR:561252 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afc8edcb-5379-4953-8610-b72268f2cc6c CLINVAR:561236 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 583e0185-8961-4ae7-a330-458f5525b5ec CLINVAR:561236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e98497a-7190-4637-abcb-eb170bdcea94 CLINVAR:561256 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8eff302a-d8ba-46dd-8b61-5a8887ddf634 CLINVAR:561256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a24e023-08fc-4b46-b4ff-96d0a4a84229 CLINVAR:561248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ea71fc9e-ffa4-4ba1-82af-1c9e9d0b7987 CLINVAR:561248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ef8bf36-2181-4a9a-865e-fde8bff0a33b CLINVAR:575051 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65fc6466-bbbc-4bbe-8020-b3f606fb3313 CLINVAR:575051 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d12a30-201e-4ed0-ba4d-be4d8286b7c1 CLINVAR:561223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdcc2024-e192-49db-bc3f-09070358b8b6 CLINVAR:561223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b05a9163-ded0-4610-999a-905815291a35 CLINVAR:376021 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e8760f1-8aeb-4dee-95e7-12a3963fc0bd CLINVAR:376021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a0e8bb-eb3e-4e77-be37-52a8efa283dd CLINVAR:561229 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67dc36fa-26de-4e72-8cde-3badd3b8e738 CLINVAR:561229 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d534b32-736f-408d-9324-8ad0d55de976 CLINVAR:561226 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7d22600-b3d9-41b1-94f6-b108298b6437 CLINVAR:561226 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f477941-96dc-43e9-8e1e-787fa03a2a6e CLINVAR:561224 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d995eeee-7b32-487a-a94c-2f1cfe283f70 CLINVAR:561224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dc87809-7c2a-4a61-86d7-918bc3d0cc9e CLINVAR:376022 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83c360c4-dcd5-4393-a0a7-b3907d7d8066 CLINVAR:376022 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef27105d-12b5-4328-93f0-73fd423f09b8 CLINVAR:376019 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92a76063-e606-4238-9de9-e5b9cc3901db CLINVAR:376019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39958455-9589-4524-ad63-98db04075262 CLINVAR:376020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 336fac86-35aa-4888-b37d-b61ab08c6795 CLINVAR:376020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c61b300-ae36-4317-80fe-73138d19dd5b CLINVAR:561244 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b8ef382-6a6c-4fe9-a4ee-c7b630574d6d CLINVAR:561244 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d81a76f-f452-4660-8320-cfc94c689d80 CAID:CA16020802 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02ee96cb-ea41-4f4a-8485-df2f66246208 CAID:CA16020802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f504e2a4-eca4-4fa5-8c1f-b4c19a9af90a CAID:CA386296833 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7b18892-7549-4580-8e42-77ffcc66ee24 CAID:CA386296833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4515293d-20f2-48dd-ad37-7d519eaa784a CAID:CA16021000 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1411d600-63bc-48a2-bf60-31f6175521ad CAID:CA16021000 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39087f4e-cab5-4ae4-93b5-9e3c29af7660 CLINVAR:1065372 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b1d204c-f140-4412-9c3a-3602232655a9 CLINVAR:1065372 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 959054fe-9113-4291-a99d-9f8d68834265 CAID:CA16020989 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff4e76b0-69c0-4e26-b812-6d80a5ee1760 CAID:CA16020989 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ba616ad-af41-453f-8157-0eb810f48ad2 CAID:CA16020933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c78d91c5-8110-4a0d-b086-d14710c09a00 CAID:CA16020933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ed224a7-9669-4ec0-92e2-2c7de6b4eca3 CAID:CA386299729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b10ea83f-9cfd-4b33-933c-60984af09fdc CAID:CA386299729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f4b8945-2e99-4b9f-a74c-38cd4db262ee CAID:CA386294521 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 535d547b-06df-4c03-9bbb-c858398217bf CAID:CA386294521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 965235af-8626-4a85-be60-6b973d5689d0 CLINVAR:225134 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1289a968-8885-4bd8-8df4-53378819c519 CLINVAR:225134 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01cf107b-ffae-42ef-84f7-ea79483f7259 CAID:CA386296582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a283041-135a-4d7c-8ac2-0879d74898df CAID:CA386296582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 532fc46c-d9c0-4f68-bed3-6334ec083b70 CLINVAR:1065380 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc55d2b1-684e-4e27-86fc-990641d28dfe CLINVAR:1065380 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f799111b-61ed-4ec9-83c2-c0e814fcb17f CAID:CA378924686 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f22211f1-a302-45e7-8d7e-62b251c1ff42 CAID:CA378924686 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43905d44-a468-4815-aa55-d12b21732ebf CAID:CA399806384 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0786ecff-2921-4ac6-b950-c07c3084400c CAID:CA399806384 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c6dc896-f6e7-4b47-9ab6-cf81a4dd9698 CAID:CA291224483 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5b41c29-d5a1-4996-8a56-4c04e66bad5e CAID:CA291224483 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 749efdf7-ccbe-42b5-9e35-fa2ac92d68f0 CLINVAR:323867 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3e07c6d-390a-4796-a118-e57efc762780 CLINVAR:323867 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27e46654-b7c1-4396-b31b-3c8be154f376 CLINVAR:631775 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c871e1c-b69f-4ade-af20-d8bbb33c58fe CLINVAR:631775 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 162bdb4a-b16d-4dea-9684-296642ae559b CLINVAR:953020 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ab0c3ce-5254-47b8-b00b-024ffc216d0d CLINVAR:953020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ac8173f-d594-4567-8fba-27c2ffb2eae1 CLINVAR:426669 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9677d0b4-ed5f-43f4-8a4e-fefcd4d778d1 CLINVAR:426669 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc8eebb5-ceb5-42f8-8ca8-61cf3122130f CLINVAR:953003 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 129d2f32-d3b9-4cd9-9e1c-0a00a7a07955 CLINVAR:953003 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f941c3a-e217-4e3f-b82b-69c49827f73f CLINVAR:417956 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9f57947-5241-4702-bb71-c40676d5a5c5 CLINVAR:417956 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c368d2c1-015b-4a1e-b27a-ce7dbebdd6a2 CLINVAR:953059 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0d3d060-2eeb-43a1-99c1-0b97a2fca981 CLINVAR:953059 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af1216b9-4fcd-4d1e-a37c-f5ae1ba6c36d CLINVAR:695458 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb73e19c-e46e-424a-8964-d6d4c3fb2620 CLINVAR:695458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef1f75c2-9317-405f-90f4-7c3651d77644 CLINVAR:323870 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3cc2682-cffc-413d-9eb1-ac36209bc7e8 CLINVAR:323870 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98139a81-28d8-4f63-bbb8-bca496019120 CAID:CA8602626 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe354da1-e338-4bf4-813a-ceb80a1e02a3 CAID:CA8602626 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c873fd34-19df-4721-87fb-90c260ddfb39 CLINVAR:2901 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b181e94-6b0c-4ae1-827b-ec5b7a68cc42 CLINVAR:2901 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecfeb376-c7de-4f26-a58c-1b46bc80d607 CLINVAR:225393 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 109dad30-b5bc-42d8-998e-ae299550688f CLINVAR:225393 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9c090af-0e8d-41d5-9e15-3cbfcd95af28 CLINVAR:953015 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90aca2ba-92d9-479f-a146-6a5cc218b8d9 CLINVAR:953015 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f27303-6832-42a7-89c4-565ba8483ccc CAID:CA913189226 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f5d1fa9-7267-4b05-aa24-4d785a90cf97 CAID:CA913189226 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eea398a-dcac-45ba-9c11-3f1186bbd29a CLINVAR:2892 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1afe409-ec10-4478-bd38-6c35406fee77 CLINVAR:2892 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dc56110-925b-4723-a4f2-258e1b9f9130 CLINVAR:953024 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 331e0123-f73a-4dd4-a2a6-8779b8c32e4f CLINVAR:953024 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9237645f-4f31-473c-baab-bcb0838df41d CLINVAR:953041 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30b51ee4-8808-4ffd-a156-5680b6b57bd0 CLINVAR:953041 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f9cc506-3efe-498d-b142-3ee1ae1246c2 CLINVAR:953047 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7ed36e0-fc61-4bbf-ae47-97fdac5d4873 CLINVAR:953047 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63954787-85cf-4c76-8151-e8b52f471d05 CAID:CA399805421 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e6f9c99-6e92-4ce2-b07b-a2082264614d CAID:CA399805421 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d72cc78f-280f-4c7f-b90c-c3eab989d112 CAID:CA399805793 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d8c2945-31b0-4477-b168-f7cef461b13f CAID:CA399805793 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a1b7399-aa66-4711-9ff5-336f4e2e3e71 CAID:CA913184940 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be794db3-963b-45e7-b11a-f64e8229d108 CAID:CA913184940 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1d16335-8b66-48b8-8d59-fb1a24876832 CAID:CA399802411 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01e2379f-34b3-46bb-9c51-c3f25a6d2d31 CAID:CA399802411 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fdc0fb4-28b8-49ad-991d-4ab58589a2e6 CLINVAR:952999 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 411bc4b9-b799-4277-9925-e55b5bcd6fff CLINVAR:952999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 985aab14-630f-40c4-b0f1-73a9246cfcfc CAID:CA658820875 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6907996-b9b8-4fcc-b90d-8ac7d27d6d91 CAID:CA658820875 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3af24e2f-5c51-429c-8a63-d05e641c2b55 CLINVAR:627066 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9206760f-7eb6-4dde-9908-a4eb0043bae5 CLINVAR:627066 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7d673f9-98b6-4e68-99a7-e56e45a5b35a CLINVAR:953043 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74b8c8fe-41d1-4145-bd47-7909b8f0540c CLINVAR:953043 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4dbb302-b193-4398-9328-247e5c17ce08 CLINVAR:13554 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31963d10-f34b-4de9-b7eb-e6c1eca1f48f CLINVAR:13554 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 302859b8-312a-4388-bfca-d35b5a84fef6 CAID:CA290950376 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e8ae9cd-7f01-4af0-84f3-aa4c8e430459 CAID:CA290950376 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8bc0159-8b67-4cff-b7dc-491ac0dce9c4 CAID:CA399801310 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8feab603-174d-4218-8624-25d2bd452446 CAID:CA399801310 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 512dc998-e039-4c32-bef3-4999b626791b CAID:CA399805557 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a4f9a93-2f2d-446c-a44e-1a5a0210edfb CAID:CA399805557 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1b59cda-d2f9-4b39-83c5-4b58fcdffa47 CAID:CA8602528 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b34a7e3b-6851-45ad-b9f9-dd702f7998c1 CAID:CA8602528 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ff18a8-a705-49d6-a626-ea52fd981eaf CLINVAR:953027 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a33b29c4-b642-43d9-9a83-5b84c873cff2 CLINVAR:953027 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95904e0f-264f-4d81-aae2-acb5bb76fcc4 CLINVAR:953051 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa1b9330-234e-47dd-8aaa-fbdabfcd6ba1 CLINVAR:953051 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1cf3c64-a3ec-40d0-bcaa-709b6851d498 CAID:CA399804619 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8092b2ca-7166-46d9-be16-fcb5bab7f190 CAID:CA399804619 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb64c60-8980-4071-ba25-ba7f419107d3 CAID:CA8623358 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae5208d0-e5a9-46ce-8243-afe51c5d723c CAID:CA8623358 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e573009-46a7-4621-bc60-3507e64554fe CAID:CA400028478 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d0cddee-337c-4b60-82ee-4e625536ad9b CAID:CA400028478 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 540c99fd-2791-45c2-88b7-21356f0bfb61 CLINVAR:953040 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73d37099-54a6-4875-b9d1-9afb306e75b5 CLINVAR:953040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed7d3155-26f4-4134-8a02-5e55b640350d CLINVAR:812736 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6556ff2f-2d6e-46f2-a0bf-89527b8dbdf9 CLINVAR:812736 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ad1eae8-b3b3-49b5-85d1-5c0b9ef15f8c CLINVAR:953052 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7379e6ef-592f-4eac-8bb5-2c4f519b427f CLINVAR:953052 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1904249-028c-417b-afa4-353683774be0 CLINVAR:953053 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb9996ea-1616-4fa1-8b05-d0cfdeb2ac52 CLINVAR:953053 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dc1422c-1267-4125-a10d-c2b10e2f1d88 CLINVAR:953007 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 704dacae-2906-490d-be41-3f2d135107a8 CLINVAR:953007 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e93fcf0-0953-4c54-a9ba-14a43bb818af CLINVAR:952996 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79a3dc74-1dd8-4d94-80f9-347ac6a6f828 CLINVAR:952996 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 219a58ca-a6d1-4ab0-89c3-ade801b2b3dd CLINVAR:2900 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3099f337-acca-46ee-b88c-7c19be5d6995 CLINVAR:2900 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc86a740-9130-4c73-acf2-94cdec239df1 CLINVAR:569057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f319fa1-9661-4dc4-851f-cd2e2343eb30 CLINVAR:569057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 930b3c9c-064a-43d0-9d91-2ebd79e4874b CLINVAR:953008 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 958b8dca-aea7-4748-b9e0-d480054796af CLINVAR:953008 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48a90340-4eba-48a0-ba9c-ae7f213ad77c CLINVAR:381747 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03f37e17-498d-403b-9061-10e1f4701940 CLINVAR:381747 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bab3dee-aa72-4565-b7fd-f56c17193cbf CAID:CA399802424 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69ff59e5-b3c6-4765-9c4c-8e6ec47b16aa CAID:CA399802424 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d4901f1-0819-4dae-9d1c-33103f34452b CAID:CA913189170 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 869f0d41-f45b-40a4-a2f5-886faa7e71f1 CAID:CA913189170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3848ba12-99ad-468c-90c2-2dbdb9841d50 CLINVAR:953004 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59e5e281-5588-43a3-8b53-0cf8823781d6 CLINVAR:953004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa77d5b-7473-4fb4-b70c-c6856504e9ea CLINVAR:953001 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f9932ac-f4e7-4eda-aaca-1b3a466cb596 CLINVAR:953001 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3a523fd-8a31-4b34-b258-804267329c2c CLINVAR:953005 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef71c7a0-1116-4722-b571-5b8a877b661c CLINVAR:953005 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f76fa8-7279-4f94-883a-99d0cf8568ad CAID:CA8603457 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc15cb95-63b9-4a6d-9034-920b95568367 CAID:CA8603457 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d43770-5a7e-4430-aed6-ff120c34149f CLINVAR:631774 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 383aa8e4-eaa5-41da-8172-3868267dc322 CLINVAR:631774 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf6ba0cb-75d1-4956-be4c-57f43fc09bf3 CLINVAR:953061 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 326b0e4a-72b3-49ee-bfad-a131fe1ed876 CLINVAR:953061 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a8b27a7-1a40-456c-a151-d65d06ca6bf8 CAID:CA8622899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7260657-2d5f-45c2-bc5f-e74b06ba17b0 CAID:CA8622899 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb48958e-1287-4c52-be3f-219952550d52 CAID:CA400033055 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b67e863d-f9d3-4451-b8c4-e0feeb4f16b5 CAID:CA400033055 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f92c796-ce9a-43c8-93df-4ff46f97a7e1 CLINVAR:953010 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a2b4d10-d3f1-4013-b57f-f8c16a8dff6b CLINVAR:953010 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06121925-885c-4e62-9a26-6dbce56c7114 CLINVAR:953029 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8602a835-7657-4bd8-96f9-ed6ab2d5ed2d CLINVAR:953029 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863b4c5a-127b-4df4-afc4-e73b1f0ad23f CLINVAR:953018 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6b2406e-2b23-4ee8-ba4b-4ec1e0e3a119 CLINVAR:953018 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db19c4d-4bd5-4c97-b7e9-73489100cda6 CLINVAR:996156 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd47990f-fe7f-4de7-95fb-e061ce2931f1 CLINVAR:996156 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0487d46-3eda-4c7c-97a0-bb794fd3d7cb CLINVAR:2895 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e6e3264-0e1d-4425-8007-d925face21a4 CLINVAR:2895 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 995eee62-c0e1-4621-8111-7cd462b32f10 CLINVAR:996168 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4587c2bc-20c2-4531-9642-8152585fbb96 CLINVAR:996168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6da0faf3-199a-4f49-b112-54ff34bc5b3c CLINVAR:996169 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e8f339a-f384-4b95-a3a1-8b6b5f6a8b66 CLINVAR:996169 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7850539-f49b-4cd0-b651-85419f4488a1 CLINVAR:996170 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 255dc458-5479-4c07-a590-f9187037308c CLINVAR:996170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9717764f-d4d7-40b1-9ef4-f963d7c4b3b1 CLINVAR:996171 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e4ac209-ae87-478f-8041-28be5b5f9f51 CLINVAR:996171 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b451097-b752-40da-b385-bc7a2e0e606f CLINVAR:996184 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af0b707c-f779-4b25-a389-d1090bd0913e CLINVAR:996184 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f7a2791-594c-43ff-9345-9d71c6b75102 CLINVAR:635 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb5b0752-4834-4891-b9bf-f75a8b9a73fa CLINVAR:635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c840041d-bee2-4b64-a480-b1610d081bdc CLINVAR:638 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8798142-7c6b-416c-b238-fcbba66c92d3 CLINVAR:638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0cbd25f-cda1-4936-ac9c-a166e9b10195 CLINVAR:928885 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad98605b-17dc-4e28-9e75-f095aa8a81e5 CLINVAR:928885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07590d5e-da34-41fa-8280-b43603f24622 CLINVAR:552657 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f607c31-6173-4047-896c-cebfaf5aab65 CLINVAR:552657 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa52b6f1-7ee0-45fc-8c88-3bad8fa9c218 CLINVAR:551103 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4e237c7-4e87-4631-a272-9dce1c6aad80 CLINVAR:551103 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bbc819d-aaab-4e23-a569-43cf2e44f902 CLINVAR:102602 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1dffca90-1c39-4eb6-80ba-92de496c9afc CLINVAR:102602 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72245ae1-4d6b-4ae0-93d1-4235e8df88be CLINVAR:996175 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 161fb6ec-b85f-4007-9bea-48cb3eaec315 CLINVAR:996175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c13928f9-4317-4c26-aa0f-2adaa98131b1 CLINVAR:627218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc02e03a-fcf7-4304-8547-86231f3b41f9 CLINVAR:627218 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16485740-f243-4fa9-968a-62dca36f231e CLINVAR:996178 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5fbd83e7-8cae-4628-a8f5-7f0e94adff92 CLINVAR:996178 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2fe62f7-b30f-46f7-a8e7-2e81c22b2c17 CLINVAR:996159 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7126879-ea35-408f-9ab7-2ad975e447a1 CLINVAR:996159 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02609148-5136-49c5-abb4-883a6becdf6b CLINVAR:996165 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cf7c5cd-bb3b-43b9-be30-851e3c4ae626 CLINVAR:996165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3481fe89-611e-43db-a055-335d993b0e95 CAID:CA290949843 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28b23e31-16cf-4eb2-9d43-40c7ae95f3bf CAID:CA290949843 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 866bbe26-99f1-4cb5-bdb9-698055a653fa CLINVAR:2893 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1934804-656f-4fbe-8ae1-b2ea1e097c75 CLINVAR:2893 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e486add2-43d1-4903-972f-ab5a0711cf07 CLINVAR:996176 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d389175-6df6-4ccc-892a-2a0c05399bce CLINVAR:996176 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac5b6b56-cb6d-4757-914e-ed4dc0898174 CLINVAR:996180 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a00423ad-b1eb-437e-82da-e29dfc087937 CLINVAR:996180 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9c80d8c-a4ed-4b97-af6f-4051ce1c79db CLINVAR:996172 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6fda73b-e463-4d00-9a10-c4760db8e76e CLINVAR:996172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c904328a-8576-4223-a41e-378e1dad54e1 CLINVAR:996161 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3aefdb5-0a1c-441b-9b61-3b370d64e2a6 CLINVAR:996161 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 666c07fd-9810-45ad-b933-97b93a89e825 CLINVAR:996173 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f14f7a21-1166-43b8-8124-a51e3baed159 CLINVAR:996173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbed9e0a-6d63-4129-9b7c-c7ea2f3afa75 CLINVAR:627131 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eabd422b-f944-4f9d-9a3b-b8a0478283e1 CLINVAR:627131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9f78baa-752e-48e0-8d50-615ec1d706b1 CLINVAR:996207 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ee2a7f9-3703-4d4b-b6b5-90aa5bf4d8c3 CLINVAR:996207 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02b7bc14-a905-4f75-926a-8192931c0c5f CLINVAR:812735 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cab2eca-8695-42da-af54-e91cdf39e2ee CLINVAR:812735 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b8f7e7d-a47c-48f3-bf5c-48b6b75bca09 CLINVAR:323868 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43b8120e-576b-43e8-aefd-b30634870788 CLINVAR:323868 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b7e8724-47f0-4132-85c1-dd14facbc412 CLINVAR:996177 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d42b7d3-f972-4d3f-9fce-14ddb60ec247 CLINVAR:996177 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e94803da-9545-473a-b5a2-7a049849475a CLINVAR:50233 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00731e83-29ca-4b6e-aefe-4792e3635def CLINVAR:50233 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595de2bc-ba8d-4fe0-979a-a949bfc69e87 CAID:CA399798321 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0821e33d-f83f-472a-aad5-01638920aafe CAID:CA399798321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72007d6a-c981-4967-b34f-fa948ac80c8d CAID:CA400032726 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76b0bf61-16a0-40eb-b490-a2d7e0945298 CAID:CA400032726 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 734681d3-f2e2-463f-93e3-2cbe96b2dbcf CLINVAR:996187 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e10c08d-40ea-44ca-a869-f72666b15e7d CLINVAR:996187 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c08db7-40f2-4ca1-b35c-7eaf9c4f1be8 CLINVAR:953045 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bbd2926-62dd-43ab-b1a2-ead2aa34560f CLINVAR:953045 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c83ab1-fa4d-494c-b466-085f6dfc43b5 CLINVAR:996160 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86a90ab7-6eec-4267-a29c-53494ef82d3c CLINVAR:996160 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 058a36f1-4e80-4e14-b0c0-3c671b82b0eb CAID:CA8602986 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d2d3cae-3871-4dc4-9501-e77ff39e379f CAID:CA8602986 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e1f0ca-5781-4055-82a0-e2b69523a168 CLINVAR:953034 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7df0410-c83d-4366-b603-421d28d0a380 CLINVAR:953034 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78040f8a-7357-40ee-bc42-1e0f97f49451 CLINVAR:953021 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7f970b8-8ad4-42db-8cce-a744a99511fa CLINVAR:953021 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e91cce8-ce48-4af6-90a2-de14e8f6659f CAID:CA290949031 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 355bd4f5-cfe5-4d55-9917-596263f3e34f CAID:CA290949031 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6dc6434-03da-4806-b605-20284e23bf58 CLINVAR:996190 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16b3bb6c-e2a1-46e9-b2cb-b7bb904027e1 CLINVAR:996190 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd22501b-bde5-4bfb-99a9-dcaa6bbfd92d CAID:CA290955739 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30698344-dcb1-47c0-9f34-0afe37040f73 CAID:CA290955739 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbb73b2e-66a9-4ebd-8cc3-e565ecba0cd1 CAID:CA915940289 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2187fd8d-13d7-4e25-9d17-ec0b3bb55249 CAID:CA915940289 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7688f72f-2a56-4ec4-962d-7a5e25f40c13 CAID:CA290948990 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd7a09f0-9f11-4e1d-a1e5-d591fcd8b26a CAID:CA290948990 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07cebaec-8485-42ef-a567-1353ec2a7317 CLINVAR:996183 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e960e9b3-56b8-46a2-ab50-bd861f3f852a CLINVAR:996183 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9b4bbb6-5452-4dbb-ab4f-bafd7293d5e1 CAID:CA915940315 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81dab8d6-543d-4577-b3f0-11c69593929c CAID:CA915940315 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef56b551-a46b-40fe-8711-42b7dc1c7818 CLINVAR:996212 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bc7ad80-7f91-45bc-ada0-8f37bf1d690f CLINVAR:996212 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 077590de-48ad-49b7-9f92-407d56cdf1c7 CLINVAR:996202 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ac4b785-4cc2-4ffd-a9fb-612814d51ded CLINVAR:996202 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d477c679-5b48-48d4-8875-3f131d2d4cff CLINVAR:381748 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c057ffec-2ec7-443d-8db0-c5dfc0051741 CLINVAR:381748 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aa923ab-1cda-43f9-96e1-114bc7dc823f CLINVAR:996174 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bbc9aeaf-1748-41d7-82f0-41b02071bf81 CLINVAR:996174 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c11db7-a4c1-4233-8304-6e7eb6a523e3 CLINVAR:953057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed68f133-8da4-45c3-85ff-56b454feb375 CLINVAR:953057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc916cbe-37f5-4853-b233-7b6e00cbeb77 CLINVAR:627299 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd2810c9-aebc-4d80-857a-b28acdde4031 CLINVAR:627299 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d105781-536a-415f-b4f9-84caa92e7af9 CAID:CA915940790 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46838c16-56e1-461e-aa15-56ab64f07594 CAID:CA915940790 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7da13057-7b44-4d0f-9a35-8e3db7544e2f CLINVAR:953030 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc2d786b-641c-4dbf-8168-fc93fa919e4a CLINVAR:953030 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7828803f-c31e-4ea3-8eaa-3bcf201f7ea2 CAID:CA400032825 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b84d6135-2f10-483a-bb7a-6ca1f2bc8419 CAID:CA400032825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8dd2897-2b79-469b-a90c-75e23b2347e1 CLINVAR:627103 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67e9e7c2-c9ff-48aa-a78b-b99a4393c127 CLINVAR:627103 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dda1747-81a6-46da-92d8-a5ee1d18158b CLINVAR:996158 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7eead56-f3b8-4950-952f-6ae004579753 CLINVAR:996158 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71c4f5db-b175-4251-896f-e67e1a839130 CLINVAR:953014 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56a38e05-caf7-4443-9ca9-afc49d3c1c78 CLINVAR:953014 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0865c62-3917-49b6-897f-4f2773266bf0 CLINVAR:996201 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5c3fdf1-11e6-46e5-ac41-cddca7e10a63 CLINVAR:996201 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e79022-1caa-48cc-97d2-07c991f60cd3 CLINVAR:996203 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a8d06d1-52b2-48cd-a459-4a34fbf00fa1 CLINVAR:996203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b640b6-0673-4fa2-8d17-97be1aa1a947 CLINVAR:996208 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4742b91-59da-4685-91a8-fc5d04533e26 CLINVAR:996208 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aea78dda-13d9-4453-bf66-8af10c319564 CAID:CA8622852 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99f35833-f497-43ea-94db-9cd3b595f153 CAID:CA8622852 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ec6969d-f807-4b1e-a1e1-12592572b90c CAID:CA400020703 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e4493d3-bf67-477b-aebf-61a52f88f5f7 CAID:CA400020703 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 014c21c4-7622-4133-a288-68937a143341 CAID:CA626224450 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62776e0e-1782-41df-869d-2fafae7a6758 CAID:CA626224450 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3bff2f6-7fba-4e57-aa51-0ef42d26f2d3 CAID:CA400025022 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45e724f9-a300-420d-99f2-b709978039b6 CAID:CA400025022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6f22a6d-ee76-4222-b299-a6b49985b7a8 CAID:CA291224887 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16ba45d6-0075-4229-a193-efc0b7b9923a CAID:CA291224887 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45a75ce7-771b-4116-bd9f-44c074e6049a CLINVAR:626993 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aeb7f969-ce44-4ad6-8a19-b46c215041e7 CLINVAR:626993 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f391b28c-0832-451c-9800-ff0ab3249a90 CLINVAR:691627 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aeeffa7b-44bd-4226-9f71-a3a16acc0b05 CLINVAR:691627 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 411c5e74-538b-4640-b050-9ac22647806b CLINVAR:996181 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42c88ecd-7238-4e2c-aa81-79e167afcee4 CLINVAR:996181 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 094428c0-63db-4e52-bffa-44dd47e84f89 CLINVAR:50232 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8589916e-152e-41ca-8960-e4cb802dfa98 CLINVAR:50232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a22b852-4ad8-4c72-9873-a418f6a6f558 CLINVAR:953039 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5e7d8e0-306f-4ac4-a24f-3042799dff94 CLINVAR:953039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47839a25-abc8-463b-946e-58681c82f134 CLINVAR:626927 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25b0a4fa-7121-4b92-bcf4-4cc8c9fe3902 CLINVAR:626927 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fe1adee-3ff9-4abc-aad4-dfddb308ed98 CLINVAR:953058 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f3ce1d7-cb2b-4d85-a8bf-2ef321da128f CLINVAR:953058 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b1a9c5c-455e-4179-875f-71f2644e0795 CLINVAR:953035 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5164d4c6-a9a2-4597-be60-60686c39795b CLINVAR:953035 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdda250a-4863-4177-b792-56be2f502678 CLINVAR:996166 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c42af76-3a87-4381-9082-932db72603dd CLINVAR:996166 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de94da4a-ae3f-46bd-b9f9-3abcad1a9cc8 CLINVAR:953036 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen daebabbe-064b-4b8e-9972-77542b650779 CLINVAR:953036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34275375-becc-44ae-b4c3-28718e5fc6e3 CLINVAR:996189 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69c577f1-5361-467a-96e2-73f7814cc5c1 CLINVAR:996189 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d285324f-ec1a-4bbd-8cd0-47e12b90d3ff CLINVAR:996182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a128803-aa48-4066-b908-34563cee4219 CLINVAR:996182 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d5d8ef5-fd19-4408-8615-7f5cb9b6fdb6 CLINVAR:996200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 481dfe79-0e34-43dc-a396-b132fbefc561 CLINVAR:996200 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 647501cb-2746-46c3-b611-587daf0b9ec9 CAID:CA400023596 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfb01ef4-085b-45b3-b282-501b856f348e CAID:CA400023596 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20cf80e0-0d4d-4545-8bf4-b736caef2ba1 CLINVAR:996205 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93de3734-5f28-40a0-b828-a3bb73eb1966 CLINVAR:996205 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cced54b-b758-4642-ab88-fa03e7fa5a94 CLINVAR:953012 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f98ba06-02b3-41ef-9631-3a164954849b CLINVAR:953012 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3a0189c-a7bb-462a-bb7e-af2e83e61078 CAID:CA290954352 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2328a9bc-ab9a-46a2-b2c3-07e2a7194b28 CAID:CA290954352 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b8d76a9-f25b-4d89-bfe5-058914174ee4 CLINVAR:953038 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a5177fc-2d7a-4221-b801-041616746cb4 CLINVAR:953038 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7a7f704-7a95-4aa1-916c-d61a2bbc5172 CAID:CA399805155 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1453f250-e239-41bb-bd80-7c6d9d233eac CAID:CA399805155 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6645ae01-49b6-487c-99c3-1f916edc4457 CLINVAR:73556 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9940d25e-92f5-4002-8cf0-605d54489e92 CLINVAR:73556 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb6e029-b139-44d8-8815-81e1aa16edd8 CLINVAR:203872 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57b16e35-afd4-4640-8d5f-ed6aab2d8934 CLINVAR:203872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0380655-0950-407e-9189-6290686abd7a CLINVAR:883981 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d04992be-ed6d-47e8-85a0-88fea95be3db CLINVAR:883981 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53fb7250-7ec4-4016-8b5c-c62f258a0867 CLINVAR:620 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2414c7ee-0c78-41d1-bcb4-195d15dcb935 CLINVAR:620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff8e047b-46eb-452a-8b23-74cad37ab77a CLINVAR:102914 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a00594a9-75db-4507-a7d5-7a177d87040c CLINVAR:102914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 025b4faa-1fd7-4a50-9b60-cd85854c82ba CLINVAR:102517 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cac5273c-7007-4f17-bf4a-08ade50e3f6c CLINVAR:102517 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8670ce04-4976-455a-82f2-f36d47ac299f CLINVAR:102794 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 772e7776-6c82-475e-b246-4f515612d884 CLINVAR:102794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ace0d89-3c7b-45ad-9bd6-ea2960ac7c5b CAID:CA1139533026 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c16c218-b4c1-4362-bb3d-bd300283698b CAID:CA1139533026 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68d5c04b-c38e-4187-bf4b-be4e0fab2d91 CLINVAR:102508 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4e0d436-e6a7-4f1b-b8ce-ac4dd340e633 CLINVAR:102508 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 911fe69b-3f7b-404d-98c0-f36969b4c89e CAID:CA645584081 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a4ec6d4-b278-4a54-a50f-036cc395bbea CAID:CA645584081 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dacb1558-d714-4f71-9e89-f6da2dc911bb CLINVAR:558091 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen caec3a4f-a902-4bd3-b189-d7f39bc3e559 CLINVAR:558091 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7db35ef2-9b61-4a91-8fab-4fdf054f8dfa CAID:CA16020897 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5b82e3e-4270-49e0-8c6b-b46c16a99287 CAID:CA16020897 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04710a76-fb4d-4c94-aebe-9164fab854de CAID:CA16020853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 297df025-fd8a-4c20-8649-c77899138677 CAID:CA16020853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dac3636-2a03-4685-b9cc-06a2b240c22b CLINVAR:102501 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 494bbe01-4afe-4c99-b0d2-b851bd8ac3ee CLINVAR:102501 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e038388-2317-47e6-ac35-ccfc35770673 CLINVAR:590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54af0e9c-cabf-4208-aa48-c5a1c2ad2fc5 CLINVAR:590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5b7f405-acf0-4815-9a17-d13869f3bc32 CLINVAR:446524 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 083f0ce2-1f31-498a-a8df-18bb434d353e CLINVAR:446524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e09aa01-adf9-4bfc-92de-a27253bf8ec0 CLINVAR:120290 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54997b6e-2392-4311-bdf1-020424edf049 CLINVAR:120290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73326382-e22e-470e-b8e7-7ae56e17dcc9 CLINVAR:102883 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe3d49dc-4620-4e1f-929b-01af66bbd4a7 CLINVAR:102883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9014ca79-740f-42ea-bcbe-89f792e1bc32 CLINVAR:12969 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5e5c71d-02df-40eb-8c56-184fcb6a4222 CLINVAR:12969 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1439ef14-c985-4eb0-b611-1a56255c08be CLINVAR:12993 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f7ba893-99ad-457d-9150-0fe14c7ced31 CLINVAR:12993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c74c4a8e-95bf-4752-bd96-8508a9d6007e CLINVAR:133101 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8ebfa8c-458a-4e8f-b084-db1b13bcd543 CLINVAR:133101 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a953c5f-75b0-4677-91aa-1038d73e911a CLINVAR:133108 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 556e6f76-6ee4-4f01-872a-3e1afb86b93e CLINVAR:133108 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a23bce0-4019-422d-a2d8-0bfdda8420ff CLINVAR:133193 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7fbb32e2-2faf-466c-85db-a4abf84d34b8 CLINVAR:133193 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c89d72a0-618c-479b-bcf2-8049e319e29f CLINVAR:133207 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a33b22c-65b8-45c5-8db3-d6f4f3a56037 CLINVAR:133207 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 607a8d45-b190-4aeb-922b-a83a9eed7089 CLINVAR:161371 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb98732b-46c6-4354-bdd8-9d94a72015f1 CLINVAR:161371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a62b3fc7-9336-4366-8db5-2fb104dad063 CLINVAR:1214007 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09dfd78d-0ab8-4b5b-a1b8-53950ef7d533 CLINVAR:1214007 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a8db1e0-1da5-4204-a5e2-db44c80b3e84 CLINVAR:133117 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e877c8a-d3ae-4a6a-8a48-e80b56c38fd5 CLINVAR:133117 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd043c24-920d-43de-849b-1120e5d9614c CLINVAR:133094 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5373ff8c-816e-41f1-85b4-42de267c4498 CLINVAR:133094 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0658f6b9-cc01-4d7f-9875-365c92713198 CLINVAR:133204 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea5acf99-f9a5-4116-8962-d5c5a10e696f CLINVAR:133204 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb68d021-2ec3-4115-84af-5094ee514060 CLINVAR:573252 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69c158ec-44ae-4baf-a16e-10cfa2f50648 CLINVAR:573252 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bad7ac8e-20a3-40e3-b945-a5c7b97d0038 CLINVAR:635269 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bb13438-3138-4fd2-b3fb-6c0009e4c567 CLINVAR:635269 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea88fdd-94ce-4381-9c80-022cd710eb25 CLINVAR:133242 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c6074cf-8c73-49e4-a97b-2fc45b5e341e CLINVAR:133242 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 374ac61a-89f0-4eba-af86-9aa0692aef73 CLINVAR:65927 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9daa8e43-fda6-485d-9bb7-674104fd5439 CLINVAR:65927 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3582941-0150-44bf-ac7f-eb1ef81d8d52 CLINVAR:133030 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 624836bb-44f3-4245-b59e-a6a63fbcfa93 CLINVAR:133030 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73c3dca3-0d0b-40a5-acfd-198a7555310d CLINVAR:161374 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e3cff66-0d6b-4cfe-b884-8a88fddd435b CLINVAR:161374 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 528fd884-30c2-4a84-9a13-c953d4d5aa0e CLINVAR:133099 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b188d167-f1b7-42df-a026-51500676dd5c CLINVAR:133099 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1cf835c-5d3d-4f4e-943e-3c0b2dd3550a CLINVAR:133182 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab219ec2-9e0c-47cc-a159-a018b3f66c79 CLINVAR:133182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42210647-bec7-403f-9edf-04eff6a47588 CLINVAR:133102 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72d95d95-272d-4916-88a7-e10afa6a857b CLINVAR:133102 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 618a34b5-3ac8-4a04-9b1a-9201570b9fd4 CLINVAR:133245 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 536038f0-8a15-4bab-8ea7-f5834f4ba174 CLINVAR:133245 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8849318f-311b-44ce-bf99-d453e0f39b8e CLINVAR:12964 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8855ba6-42c5-4c49-8621-bfc05884771a CLINVAR:12964 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5b0896e-9226-490d-b6c5-4d60d07e70a4 CLINVAR:133147 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27adb395-28e0-4d05-ab67-0888b72eb766 CLINVAR:133147 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1518bca6-76af-4be5-af7d-3ecbc6acfecc CLINVAR:329061 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8638b8a-57ea-489b-b5b3-753021c7993d CLINVAR:329061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 350835a5-4b18-4715-8c16-e199a6bfafea CLINVAR:133133 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bbeb7f9-3088-4d42-bb46-8469e549ee1b CLINVAR:133133 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65db9018-1c5f-4841-87e1-8fa656660e26 CLINVAR:133004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3367b63-fe49-41eb-8edf-8827e200860f CLINVAR:133004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0ee3bcc-c44c-44db-a02e-36884edf97e6 CLINVAR:133132 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92a6922f-71df-4cbd-8ab4-3fdbad27bc85 CLINVAR:133132 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f9daee2-13c9-4f70-a97f-cab8e3c3f119 CLINVAR:133171 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e159e076-426a-43d4-ad1b-e7251268c4e5 CLINVAR:133171 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78c01aa4-29b4-43d4-a1fd-be5629a2c256 CLINVAR:65984 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a21c11ef-8ca1-42d4-b1dd-765f524f49a0 CLINVAR:65984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd565747-5ac4-45df-b035-9cc9c384fa63 CLINVAR:133136 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21171a5a-40a0-46a0-b58c-1324fe71bd21 CLINVAR:133136 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74410f4e-5199-4427-bba3-70f42e30f233 CLINVAR:65953 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb8ff0e2-8cf2-4641-bb91-eeeb78cc38c7 CLINVAR:65953 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d52031dc-3573-431e-806a-2b676ecc9912 CLINVAR:1214004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a2387ac-af6e-4b90-b648-f0072ecd769c CLINVAR:1214004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 206df066-803a-47b4-bcc6-abee146fc213 CLINVAR:12973 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8adf361-8b2d-478d-b0d9-f9e5e9d482a3 CLINVAR:12973 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 087f8a17-3549-4c27-b4b2-0409eb55e2d8 CLINVAR:1214001 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c713d823-13b3-4956-b6c0-48740031adca CLINVAR:1214001 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd8c6e9b-25f3-47d8-a5aa-bf696f52ecd5 CLINVAR:133003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2429cb0b-0ba7-4628-990e-4eefcb425a27 CLINVAR:133003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26101ec-0cf9-41cb-ad99-ddbc7f07cab4 CLINVAR:590508 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9038c42e-36da-4061-9dca-053d5f5ed352 CLINVAR:590508 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46347589-cdcd-4240-87ce-bdcec8faba7e CLINVAR:133139 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9504c460-60d8-4ff5-aa7d-920705704b47 CLINVAR:133139 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba6c320e-1189-48ae-82a3-4290aa69add7 CLINVAR:1214000 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56afdeb0-7d6f-4733-80ae-c0018424bf37 CLINVAR:1214000 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 191f4d5c-eb9c-4478-9dbe-fcc474a40c84 CLINVAR:1214008 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c34f5b3-56c1-4395-8d48-5352e659734f CLINVAR:1214008 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0853c3eb-851d-4a1d-adff-69a565a7c787 CLINVAR:590585 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 122ccfa8-57f9-4428-8631-c7c89096572a CLINVAR:590585 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6098ff4-8d98-4b18-8d8f-4bfdbe35c287 CLINVAR:133045 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f26d4d6a-24cc-4688-9078-78becb986c1b CLINVAR:133045 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23ddb8bf-6b43-4d02-80ce-7c439aeadfc0 CLINVAR:133122 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ee7b5f8-a9b5-4419-9a27-6026cce676a8 CLINVAR:133122 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 269c849e-971e-4c04-ba5b-41b1df6f1c96 CLINVAR:133076 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95b3d551-1151-44fa-87a3-c84bd49ff569 CLINVAR:133076 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b36e029-9b00-4dd4-91d6-eb172e491a89 CLINVAR:132995 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 501801c9-7edd-468c-a6b8-8a9c900d0f97 CLINVAR:132995 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb256d9d-a640-49bb-8de6-2765e4cf4f20 CLINVAR:133141 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2156a20d-71d2-469d-b355-2cb1642db82d CLINVAR:133141 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27c0cb01-6c1c-421a-8e9c-a906a37f3346 CLINVAR:448182 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 454a4dc5-42c4-46ab-8d3a-77653f5bb433 CLINVAR:448182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5359e5d2-e16d-4a55-a9bf-e3b2665dc9ae CLINVAR:478267 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52fa1790-7667-4c95-b775-fedf1315ed9d CLINVAR:478267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef55a72-366e-415c-a18d-fc112d2d122f CLINVAR:133129 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6d37b1a-1d27-42bb-964c-f69c89ee846b CLINVAR:133129 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0acbf29c-a6f9-45b8-a7a3-6a1feb15dd37 CLINVAR:133103 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b83d9d22-0495-4686-aa1e-f7912c4a4243 CLINVAR:133103 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a56c3eef-8d7f-405a-b4ec-a9b0ce9fc352 CLINVAR:132992 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf774a9e-f56e-4eb8-bc3a-6806ad640c21 CLINVAR:132992 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac0a6ade-fe62-48e8-905c-e6c4c1039ce9 CLINVAR:1214005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 710fbed2-6290-48a6-8f0c-d934bbf30d36 CLINVAR:1214005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e33dfdc8-5b0f-47cd-ba75-2debab87f9e4 CLINVAR:133137 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32188a58-469c-4ae6-ad81-ebec02c83ac1 CLINVAR:133137 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a683a5e0-b3f8-42ff-8d19-79fa155fa1b1 CLINVAR:65932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f45e15cc-c695-4665-9b94-b92b13e665be CLINVAR:65932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93fdb6d5-a7f9-4000-9c32-36496da08008 CLINVAR:478260 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1b2d5d1-a00a-434d-b857-5880a12d1051 CLINVAR:478260 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46b13f5c-a664-4518-838c-18ae23a7c589 CLINVAR:133170 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f938ed36-18ba-46ce-a192-5b1bf7e2044d CLINVAR:133170 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50ce0a53-b29e-4a53-885b-879ad05c795f CLINVAR:65993 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d95d56f-9e6c-4286-99bb-46ee323a4c8e CLINVAR:65993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 521b4be8-5714-4cc3-bb69-2aaa2612b2e6 CLINVAR:159840 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c37be4dd-c7ff-45a3-bf1f-6e88355c7ee6 CLINVAR:159840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 495ee620-e3ed-40cf-922a-987d1eab6f3a CLINVAR:133140 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 006aa55c-d8fb-4d26-91f7-e43e0d8b7bab CLINVAR:133140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78caa343-7afb-4acb-a71b-794ddf2ba17b CLINVAR:291315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24d6825f-ea75-4a7b-81fa-b55432ec9b48 CLINVAR:291315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c84501a7-d73a-49af-93d0-1cd6f7ffdacb CLINVAR:1214003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94e7b755-3b15-4c28-9e0b-39db571c52b2 CLINVAR:1214003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f59cdb89-8470-4aa4-a669-52cecbadf849 CLINVAR:133046 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b99229c-aa29-4c43-9f04-578e6c2b0099 CLINVAR:133046 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 076dee3e-2aed-4244-b37a-50429155b148 CLINVAR:1214002 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94185091-2d98-451e-8e98-bba92ff4ed81 CLINVAR:1214002 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc2f2ff6-8682-489f-b545-67850216bfee CLINVAR:803553 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 164cee79-c755-4554-ba8c-8583077efc42 CLINVAR:803553 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ef44a8d-67ca-4e18-92cd-5e88bddc33cc CLINVAR:212100 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11ff34b3-da18-4c42-bb15-62bd24aa0911 CLINVAR:212100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0028a6b4-a26a-4f6e-8b48-21803b1b674f CLINVAR:55831 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81f982d7-aa01-410a-89b0-760519a105c7 CLINVAR:55831 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b22e2f1a-9db1-4180-859f-8c494625ea5c CLINVAR:133096 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ccedf9af-fa08-431d-8435-1cfe0ac3751a CLINVAR:133096 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8133ccba-85f8-4023-94fe-a70179395dfd CLINVAR:102859 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1a1d17b-4f61-46d4-a117-1a15a97808ca CLINVAR:102859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb46cd61-9602-423e-b1b7-37499bebbf45 CLINVAR:102727 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdd88ce3-e2e6-4073-990d-3758f14e26bd CLINVAR:102727 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c717aee3-c5d2-4317-b56b-8cd31eb822f8 CLINVAR:664621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c03ab1a2-afd5-4b73-a6c5-ccc931676c21 CLINVAR:664621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71983a72-d5e6-43ae-ad2d-9e6c4a30ea0f CLINVAR:102738 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 060da02e-e21b-4ec7-ab2b-93b7b0d48824 CLINVAR:102738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90b409d2-fee8-4a36-8ab5-12d36d415a35 CLINVAR:102878 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54c347fe-cf1d-4e49-b971-3a17cf1539e4 CLINVAR:102878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 115f49aa-67e2-4797-9fbd-079c3ad8aeb0 CLINVAR:102890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0125ed31-0d60-4e85-bcc2-a3935e9aadc1 CLINVAR:102890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eda8a37e-624e-4143-813a-715ecfbb1b3a CLINVAR:102464 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6df2a3bf-960d-4685-b773-667c659a11e5 CLINVAR:102464 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3e18f8-ba74-4431-8dea-f8d2f571b877 CLINVAR:102917 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0c12802-55c9-46a5-9765-d3b055454faa CLINVAR:102917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ba2e40a-ca15-4ea1-ab4e-3692883b7d0f CLINVAR:282842 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c52ecb8-0cee-4d32-b524-bce672d83971 CLINVAR:282842 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27ba5cd9-a074-46dc-8059-11f1b610f2c6 CLINVAR:93540 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 55ebcdea-23f9-4644-8c41-ad025b91f948 CLINVAR:93540 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d5d6779-cdb1-46b8-9003-ee8f0a302f36 CAID:CA6748738 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ffb52e3-ac05-4be7-bb8f-1da270de6bc6 CAID:CA6748738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae7fd4bd-6500-45f9-978b-ca4f459e8210 CLINVAR:2896 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bd57f47-ffd2-421a-8821-52363161fe49 CLINVAR:2896 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3f4dd90-79a6-435e-97af-16d7632fb822 CLINVAR:952997 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afb0bbdf-b484-4693-9430-4522f912ea2f CLINVAR:952997 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95593003-c3cc-4955-9486-beb5f71c158a CLINVAR:952995 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c38040e1-e0dc-4f03-9fa5-7ab3b0600859 CLINVAR:952995 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5dfafca-9aa4-48e3-b2ff-5755ca4276d3 CLINVAR:132709 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f1cf544-1c20-40a9-9261-02d07012e26a CLINVAR:132709 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56bc166e-5541-485a-8641-c088740d578e CLINVAR:234571 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ae9ab41-3a23-4cf8-992d-83a4d48674c2 CLINVAR:234571 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa5e02f-d0e7-496e-8dd2-acbd35f7ef7c CLINVAR:532474 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44571ad0-0148-40e8-9ca5-cf9405de5298 CLINVAR:532474 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5357e68-0fda-4d10-9512-7516c634e9f8 CLINVAR:532457 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1967155-779c-4789-a201-7d7bff0b4ef8 CLINVAR:532457 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82879605-9f63-4f09-a8de-d9ced14dcd12 CLINVAR:486826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b64763a-bd1f-4685-b596-5f2dd2b5eebd CLINVAR:486826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc654e2c-4807-4178-84b6-fa12f8ce6f14 CLINVAR:463723 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bd8303c-0f24-45d4-8fe0-ae415fc2274d CLINVAR:463723 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ce78484-8b14-4cf7-af7b-4d00df9b513b CLINVAR:481704 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97be3751-66fd-48ac-8a87-1808e0adfe2d CLINVAR:481704 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0d01f63-fe94-438e-b996-5d89196b1eac CLINVAR:532459 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42d3fd14-1f56-416d-971c-94466424a995 CLINVAR:532459 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ba37473-d05e-4770-8c48-5f94d038a141 CLINVAR:233417 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8d7e6cc-d0da-442d-bdf1-770171f75255 CLINVAR:233417 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25788274-051c-44b6-8558-377dca4b3fba CLINVAR:127915 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 367e3f31-f137-4383-8fbe-d2001246c53c CLINVAR:127915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f4b7639-fab5-453d-bf82-fed468646af1 CLINVAR:406622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d757191-fb6b-4e56-8c76-b37f068c49a6 CLINVAR:406622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b7254a9-4016-4cce-b56c-257b42a2dfc5 CLINVAR:651982 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b753e64-60cb-4bbb-b570-684c7adb141b CLINVAR:651982 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2852fb6-831a-41e0-b4a8-4ef5065cc6f7 CLINVAR:428629 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e98c6e8-20d9-43f7-ab53-0a4c2eb4f875 CLINVAR:428629 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7926af91-5934-4526-b5d3-b41ec616ce52 CLINVAR:371806 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8efd872-b04a-47f2-8b1d-d884d7457690 CLINVAR:371806 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 502db7c3-b834-442a-b024-bc1f9952633d CLINVAR:479514 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86c249e5-4a4c-4f89-bc84-cf0a2a62c802 CLINVAR:479514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4ccaacd-e8ae-4f46-b3bc-6b133fbefecf CLINVAR:421639 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e5b78d1-8865-42a0-8a62-790a503886af CLINVAR:421639 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5def012-db16-4da7-a364-8e2860c66061 CLINVAR:491520 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87ca56be-fc2b-4157-b6cb-d4b2b73c858e CLINVAR:491520 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78329b70-563c-4bce-8f6b-a21330f0d222 CLINVAR:481028 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4478e03b-7c93-47ac-84c6-6b6d857d330f CLINVAR:481028 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8085242b-994a-44c4-a411-d3bc5c26c3fd CLINVAR:224529 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65be52d0-251c-4752-a9ac-ed793d576f30 CLINVAR:224529 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5846973a-e884-4b06-a38a-a01333a7c996 CLINVAR:573147 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27a42c9c-8027-4add-a11e-7b687b8c1443 CLINVAR:573147 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81309bfa-6ba5-44cb-948f-ee4cdb5735e5 CLINVAR:428634 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac82cbc6-bba2-40d2-9c14-aa954d7d4938 CLINVAR:428634 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ae649e-cd9a-485a-9274-7d1bec2bf15b CLINVAR:463736 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5257a670-729b-45d0-b7f2-7073efabd570 CLINVAR:463736 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1166290-3c06-4bdd-8929-9b1a0f5497c2 CLINVAR:918853 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdf0e4e8-ac61-424d-b5e5-083146943b91 CLINVAR:918853 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf2c9af9-c9df-4e49-992e-b14d55201cb4 CLINVAR:234636 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00e4a69a-5377-42cd-baf7-1169f3cd1474 CLINVAR:234636 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26716d46-c4ce-4afd-b8d1-2bbfbe6725d5 CLINVAR:483276 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 005bb796-140a-4dd0-ab61-bc115ca344e0 CLINVAR:483276 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75d7277d-6cc9-4f5a-9fc4-d38d3402cc88 CLINVAR:207545 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82aa0fb2-ca6c-462e-873b-204173038420 CLINVAR:207545 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a3a216c-44ce-462a-8ad6-f064f51c411c CLINVAR:95378 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe580dcc-a7e4-47c5-ae8d-db8ef40a3704 CLINVAR:95378 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e38c2656-dacc-4633-b35f-58416014eef7 CLINVAR:167702 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42fe8cf7-e792-458b-888f-52581ef174f8 CLINVAR:167702 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2c9fa2b-f12c-44ce-8e97-9f1cc8470f95 CLINVAR:95202 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd8a3172-f7e0-4d59-9333-71e5cb1f8120 CLINVAR:95202 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e988aed6-0b50-4623-ae5c-c6e7073ae869 CLINVAR:143406 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5d3dbed-2c83-4dbe-9eb3-a19cf9d65fae CLINVAR:143406 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b892aeb1-9414-43eb-bedf-cb23bd580126 CLINVAR:158602 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57acf837-4e26-407f-b6f8-c3ee75990742 CLINVAR:158602 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e5d2bad-80c4-4419-9d89-83c534b846b1 CLINVAR:383439 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79e75786-532f-429b-825c-41f7a87bee95 CLINVAR:383439 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48f2f46e-93fb-45b0-b14a-7bda0f1d2c85 CLINVAR:189612 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f898d378-3518-46ce-9d6f-fccf707afe81 CLINVAR:189612 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 421ffef7-1953-49f2-bc7a-e5d7af7c6327 CLINVAR:156616 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c9801c3-6d70-4a5c-8a02-b65ec1a7f023 CLINVAR:156616 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa6374ad-e936-4032-ac55-a23966c87223 CLINVAR:205485 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5acc4e65-3f66-45d8-a2ea-c73f539d8cb0 CLINVAR:205485 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b7382bc-4c15-4ee0-8a19-507d3bf96b3b CLINVAR:158179 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0714e36-ab9c-4a5c-b4d1-5510fa516908 CLINVAR:158179 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7356ae9b-37e5-4aaa-836c-9a6e20cd389a CLINVAR:7967 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93717376-8419-4879-950e-d348e37123c8 CLINVAR:7967 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f45ee568-8de7-4101-a7bb-1c59b5afbdcb CLINVAR:546267 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25141599-5a0f-4a2c-9300-df0f85005d83 CLINVAR:546267 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3db1f907-3ed8-4d9f-9d9a-99b00ef4489c CLINVAR:214935 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5300328-5a8b-4dc0-acf3-e77e793418e7 CLINVAR:214935 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2406ff1b-656a-4fbe-857b-3d9cea804c85 CLINVAR:10880 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11435860-7687-4986-ac99-635f3a9c3f18 CLINVAR:10880 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 274552f7-b1e9-47a2-817f-0dc4d4cf463e CLINVAR:214941 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13bb0b8b-60d8-4429-9ac8-36dd42823def CLINVAR:214941 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a67c812-8704-46be-aaf3-5480663dacda CLINVAR:655703 biolink:genetically_associated_with MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af5786c2-c3a0-4254-8047-506adb40ac05 CLINVAR:655703 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5101f06d-e371-4580-a6c7-0e99bfd7a395 CLINVAR:391039 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72f793a8-b89e-4ae0-9b31-9e7b748a3f8f CLINVAR:391039 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb04901e-e0d0-44e3-9eaf-e8ce56847062 CLINVAR:2317 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88e0e842-dd44-4946-8f35-438b8960ca2c CLINVAR:2317 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78918228-0c7d-462a-8766-e55f2d105267 CLINVAR:129997 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1ce8a1b-654f-4161-a447-6d49ffa0c295 CLINVAR:129997 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17490915-2931-45d3-830b-bc527a505364 CLINVAR:138764 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b5dacaf-ef42-4de8-a7e9-91433ca2378e CLINVAR:138764 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 823c0b7c-6c1e-40b6-bc6a-141b042abfe9 CLINVAR:597808 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e43eb24-1f22-4df1-9cfc-1cc0007d827b CLINVAR:597808 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c13fd2c-2d25-4e9b-850d-18a0430afbc2 CLINVAR:21315 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ddc0246c-5de6-42a9-b472-76afe5616b9a CLINVAR:21315 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8e435f-ecd4-4162-8269-626f2c7c7f58 CLINVAR:285869 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e26068c-0aea-42cd-9e8f-23fdca82eeaa CLINVAR:285869 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cf4d366-1a20-401f-9109-d5d701752db6 CLINVAR:378418 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23ef156d-161b-4de4-a7d0-46985e36dabd CLINVAR:378418 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d962626-47bd-4b53-953c-e52c7932e143 CLINVAR:885824 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 900936af-2225-431f-a62a-3ef96f22f035 CLINVAR:885824 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e76741b0-f9d6-4dfb-af11-d4cab3b9752f CLINVAR:886829 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 893d734e-d586-4f48-bf8e-67da807296f8 CLINVAR:886829 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbb17246-d999-4130-98d5-7baef210a2d3 CLINVAR:426681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c74a4e7-54be-452e-aeed-e8925a58aa1b CLINVAR:426681 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02117dd8-af17-4254-8771-7ccaadbcf06d CLINVAR:619340 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b890e432-717d-4c43-9bbd-adc6401c9449 CLINVAR:619340 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0007fc66-2cb2-4f47-b086-f83d01bca134 CLINVAR:317304 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fbbff58-db93-449e-bf2f-a84194151a69 CLINVAR:317304 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec06b7a2-d18a-4a62-a01f-87ea8274457d CLINVAR:129995 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 348c93f1-b463-4d17-b655-73ee8068ec2a CLINVAR:129995 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0725a49-8090-4591-ac40-9f008b8f14bb CLINVAR:206553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55bd6fc1-35ef-4f46-8b4c-02963020cd06 CLINVAR:206553 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3733c6-ed63-4864-98cc-c3ac55105b34 CLINVAR:504504 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04f72336-f807-40c2-96a7-f35dce0df642 CLINVAR:504504 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f96165d1-a778-402f-959f-8c9e39710c50 CLINVAR:620293 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e7ff8d8-6f55-497d-bf38-32eb9b721a49 CLINVAR:620293 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dead078-4a10-4ec7-bdd8-78f49d755e5b CLINVAR:143822 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15fdcdba-2591-43a4-9548-e05fb23dd5be CLINVAR:143822 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e1051f0-762a-4840-825e-a362dc93df1d CLINVAR:195397 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 292afc2b-fc49-476a-9544-a8aa6a3b238e CLINVAR:195397 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac832daa-5e6e-45d3-b7e1-a83e944152d6 CLINVAR:418572 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b735b3b-4bff-426d-b893-6e3405815b05 CLINVAR:418572 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3115f841-c288-4bc2-bafb-c0520ee3bae9 CLINVAR:94113 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c678dcde-78b4-44cd-b176-a7143dcc859d CLINVAR:94113 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e64d5e3-d7f2-4bb9-b9ba-905168c32e9f CLINVAR:102891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1781f1d-9556-435c-b6b9-6d327a16ffbd CLINVAR:102891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87b7b5f4-13e6-4e5d-8201-d45c9686ad34 CAID:CA16020891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 735d2783-8769-400d-8b6a-d3e3065dea4b CAID:CA16020891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d36530d-8b08-437f-b690-57262e954e63 CLINVAR:102466 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32ee0ac1-4aa1-43a5-acd5-5e70a18fcee2 CLINVAR:102466 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce2a1b98-5f24-4832-812c-e34168d9bb72 CLINVAR:102467 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6c6a6f0-8892-46ec-9086-8cc6a699daca CLINVAR:102467 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26cd1b6a-426e-479f-b095-a89d6d0c7fdd CLINVAR:102469 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9c61803-a4a6-4dcf-842b-5d2126b2bcf6 CLINVAR:102469 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d28b11b-e126-48e5-82dc-59edf162d41c CLINVAR:102471 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02c48f59-859c-4991-8e1e-e90edf7ca5bc CLINVAR:102471 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a56e0f-f178-4302-8c76-5f2b37dacc5a CLINVAR:102472 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1998680e-59d3-46f2-8257-fb189049e900 CLINVAR:102472 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35f50be5-dad9-46a9-8708-d059640e8511 CLINVAR:102512 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b43ab42-7d74-48f6-8cef-0c793d633f9e CLINVAR:102512 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc4fd508-a052-410e-8621-23307004804a CLINVAR:102527 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3e8247b-ec14-4716-9712-b5de33a80812 CLINVAR:102527 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 681bce44-fd07-4717-9388-98772d05f600 CLINVAR:102665 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 720869a8-5fc6-49c3-b546-a70f4b08442d CLINVAR:102665 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e02adf9-24df-4f3b-a318-89079b217a3b CLINVAR:690393 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba0cd55b-e75f-48c5-9e41-7c6b1e8f72a8 CLINVAR:690393 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2fa5b16-a403-4145-9b88-111ee2e23b38 CLINVAR:434661 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e99ff8c-b749-4a87-bead-8572722d7e40 CLINVAR:434661 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 668e3b80-24cb-4c3d-84fb-5b74cb432b8f CLINVAR:434662 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5644a8ca-aa8c-46e7-9157-cfee3ea72b35 CLINVAR:434662 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e59058-cd21-49d3-8146-35e294a4ec95 CLINVAR:133342 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be0782af-ccdf-43e6-b56b-97b1caacbf1c CLINVAR:133342 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3ac725a-f59b-4f5d-8b82-9553a0a8f2e7 CLINVAR:143578 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26230de2-4c03-4684-824e-ae86c0f9ba22 CLINVAR:143578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1a057e3-922f-44a4-bf95-75f457eae1cc CLINVAR:421239 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac4ad47f-7a3a-456d-b754-dbf297ea54e1 CLINVAR:421239 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 219abe71-538a-49ad-9be8-53096f4a57e7 CLINVAR:420601 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f9cce1e-9ad7-4c68-98af-9ecd0fb36f3a CLINVAR:420601 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcb1ed3b-b60b-4b0c-874a-e4c8944b7425 CLINVAR:524012 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b7e11bc-892c-4585-bc39-346bf8d616eb CLINVAR:524012 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cf628a4-4dce-431d-bf8e-b3b807661a64 CLINVAR:207239 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73994f60-e2ad-438d-a59f-6c7be84cfca2 CLINVAR:207239 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74d1df55-5eef-45ec-8212-64b2da212a3b CAID:CA913189044 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fad89d33-64b3-4b7e-9755-d3607eca2dd2 CAID:CA913189044 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a2ed2de-c96b-43b0-8325-2dcde424be73 CLINVAR:859603 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab9cb2fd-3cf1-4b06-9084-b0723af0de01 CLINVAR:859603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bac6ee16-ca57-468a-9e10-8b9b18d8f9b6 CLINVAR:429629 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ef76737-1e43-43be-bda3-9d0e392675d9 CLINVAR:429629 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cdfdad7-60ec-4756-80af-fe49709a6b4d CLINVAR:11824 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98b02051-7906-4255-b1c7-5432880766b1 CLINVAR:11824 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d8d2d52-e7e6-4349-902c-e1809b396605 CLINVAR:11503 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab8cc3a3-0dd8-4101-bef9-2e88a94e5653 CLINVAR:11503 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82cfdd81-fad7-4c05-a1c1-6bc153ae225c CLINVAR:503729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68351a6d-8f44-49cf-b01d-4c4ca275dfb3 CLINVAR:503729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f38aecc-c976-4f89-9145-dd018b6e7f00 CLINVAR:11819 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3bf7d24-22be-406e-adbc-384f2b33efdd CLINVAR:11819 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5b8bb8e-47ed-458d-ade4-d66578f04731 CLINVAR:7371 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70ee2c2f-172e-4ab9-8bac-502005230684 CLINVAR:7371 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 572fcbed-45e3-4051-823e-5fb6412c9f47 CLINVAR:212379 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ad526d0-5bf2-44b1-8f51-22989bb460fa CLINVAR:212379 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 534bdf25-cd76-4f64-b7b8-8ec2e039288a CLINVAR:451937 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 504c0445-b0b2-4b59-885d-dc6aacfc5b8f CLINVAR:451937 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb90e0fa-ebd7-4b18-9e64-f1a25bd9f512 CLINVAR:160220 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 205466b6-0aff-497a-a582-b7ca5f77a5fd CLINVAR:160220 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 352b7c4c-4d51-4088-9b88-9773509ab355 CLINVAR:393171 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38380d5b-3903-4b46-b713-d1058399aa47 CLINVAR:393171 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3c02da9-35d5-407a-83f3-0227506be3a7 CLINVAR:156620 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8c4c024-82f5-4566-9ff9-88f122ef0b45 CLINVAR:156620 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8df35884-6d86-41b3-bd10-a9ead0c4cf57 CLINVAR:432062 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20c8f075-30aa-48c7-844a-97766afd3a1e CLINVAR:432062 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e621bc3-8a94-4200-a631-9240610bac2f CLINVAR:11844 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ca1d8f4-228d-4b17-9d3a-b4efc25260bd CLINVAR:11844 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b46377-8e55-42f4-a8e5-b1ef1d6e2514 CLINVAR:160092 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09eb7385-4b43-45b3-91a4-f2919f9de9ef CLINVAR:160092 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a67726c-776c-47b0-b50e-8a1222e219a6 CLINVAR:155987 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ed5591a-9f28-4a54-8b35-b9bcca9e41fd CLINVAR:155987 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faf7bdbe-12b3-4eb5-aeec-9cbe57bd49b9 CLINVAR:143826 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b74345d1-14e4-4798-a400-8d27f8693b22 CLINVAR:143826 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54019432-d51f-48ec-a185-386cc3ec26d7 CLINVAR:136199 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25052138-f322-4ab2-a2b7-645a4605732f CLINVAR:136199 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a0910a2-2a10-4689-a518-f54905b11daf CLINVAR:143524 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19575ad8-b323-48ba-99ea-ee6245393d96 CLINVAR:143524 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f27640a-7c17-455a-bd15-90703725a240 CLINVAR:155994 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5df35d27-3c52-4361-b48f-4a5f431eb2ef CLINVAR:155994 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74ab07d5-a980-43d2-933d-14da8b7183b0 CLINVAR:918032 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen badc20fc-543a-4fe6-96a3-93641f166b19 CLINVAR:918032 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5c82c7b-e04a-4ab6-82dd-777b7a7bb0e6 CLINVAR:189554 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3437ea4-c6b9-40d7-bd04-fde34d10310c CLINVAR:189554 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5a17cda-3b2e-42b1-a24f-87338829b687 CLINVAR:93542 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed31dfb4-ca7e-4c42-aacb-671e941f3217 CLINVAR:93542 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37dc369f-8adc-453e-a036-0f21f1c6703f CLINVAR:95268 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25cbf258-2b0e-45c3-89f1-026e3894f004 CLINVAR:95268 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f8daec7-8463-4b4a-8e1f-e6a49a2038d7 CLINVAR:423029 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36baef99-52f8-414c-b14d-1a6fd80a38a1 CLINVAR:423029 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1ab7d32-fe89-4b64-886c-13d7f4ee002a CLINVAR:381549 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a3ba80f-8ce8-427f-8dd4-e1a2aa8e2355 CLINVAR:381549 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c1b20f-3e69-4c19-bbb6-09a00179a2d5 CLINVAR:156068 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f95cecd-88e1-43ae-bbb4-e684b7aea216 CLINVAR:156068 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38b1999a-d6f4-45ce-b8c6-49eac7cb78d0 CLINVAR:7370 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48a46d64-0f35-4b2a-a4e8-7ab8b366527a CLINVAR:7370 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ffb9a65-7d2d-447d-90c6-c3d5f5a3c8c0 CLINVAR:11502 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee3bcfd8-3a41-46af-a1ac-7f21532861e3 CLINVAR:11502 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1c5bc03-9033-4bf8-815f-77c53d92253b CLINVAR:21318 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9e7d70a-a592-482e-9166-5e60151b315b CLINVAR:21318 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca794899-1ce8-4642-809d-dc12cf0f9e15 CLINVAR:206556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d68da01e-6393-4fb1-8574-c7cf5df2c26f CLINVAR:206556 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1939f2-b0e0-45a9-92ae-1e7d479dfd2b CLINVAR:566733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a272892f-ba17-4b86-ac2b-5bab08315d7f CLINVAR:566733 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ecf3e8-bbb3-427d-9faf-6d263ccc4a59 CLINVAR:133032 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09157ea0-89f7-4058-9f32-698ae0af8109 CLINVAR:133032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbb25113-c4fd-46cb-ba31-ee5da0b87440 CLINVAR:133005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen feb6c276-0c21-410f-b386-3cdab80c6bec CLINVAR:133005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e73ef6cf-31d6-41c0-a74e-7e407f670557 CLINVAR:133013 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13335637-f5b4-450e-9cd9-9dbe03d82a60 CLINVAR:133013 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4748edd4-9c0e-4663-ad9f-58969653344b CLINVAR:1029908 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3d61efd-4a17-44b0-ae2c-dce16bd0934b CLINVAR:1029908 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91c8deaa-2dd6-4c1c-be5d-31320f779934 CLINVAR:65956 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97e6e4f8-5fad-43a7-86e7-ed1af1425235 CLINVAR:65956 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a3ea3e7-b88b-41d5-8e80-282d743b4e80 CLINVAR:1120227 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6eb80810-e7e9-4c2d-89b7-49ad19ed78e6 CLINVAR:1120227 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d78aa3-2d55-411f-ad72-d81ed720feac CLINVAR:933345 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6d10c28-4c5a-440f-816f-39312beb8301 CLINVAR:933345 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222a93d5-c5cb-4069-a607-315fd0a6f6ca CLINVAR:478157 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecea3a18-e882-4eb2-b48b-e811cfa74102 CLINVAR:478157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16bad225-79b9-45a8-a31f-1891c90541bb CLINVAR:133036 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3aabdc9-96b9-4097-89ce-0bcb1113f546 CLINVAR:133036 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b914ae2d-b733-4fd4-977b-6398478d17ea CLINVAR:1019540 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb9db116-f5f7-4d99-908e-cd2e871e1dc2 CLINVAR:1019540 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61c93603-783f-4afa-add3-0eaab7cdf700 CLINVAR:132988 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f7c84c0-1585-4803-b513-509e071e4f44 CLINVAR:132988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6e9f64a-dbd3-4f29-a74d-d5131f258fa4 CLINVAR:133033 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7139633-e903-4f8c-b54f-8f50283f3258 CLINVAR:133033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1de541c-7711-4cf2-af92-64cd4dec430a CLINVAR:1120229 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 023942da-ee76-45b4-a22d-4686fa9dd42f CLINVAR:1120229 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d91c7bd-1974-46f4-9031-c0021fc21d18 CLINVAR:133025 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db9faf18-1106-4af8-9fb8-f25285b116da CLINVAR:133025 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90d2b937-20b7-412f-a80e-d702772fc5f8 CLINVAR:1120230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 539f490f-84b7-4950-aa23-a5a588018590 CLINVAR:1120230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc49afe3-6c6a-4a87-a7e9-7f37b5b0fcef CLINVAR:133040 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23900996-3cf5-42dc-9dba-a12045766511 CLINVAR:133040 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f352051e-1773-4f87-8702-4a8dc9bd6c62 CAID:CA16020940 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0633f15d-1881-4eb1-b06b-4966e91a671c CAID:CA16020940 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d283263c-b1bc-4acd-b982-87df8fbf11ef CLINVAR:639999 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ffa24b7-55ee-4d70-808b-07423f16fa28 CLINVAR:639999 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5706e759-4b10-4071-a56c-51399c8392bf CLINVAR:161377 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 300b8f46-b8e7-418e-8cd7-c10a5040f5d0 CLINVAR:161377 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 403b6786-89e6-4a0e-9410-cb028a878d17 CLINVAR:102582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7751841c-b782-4943-a104-4bb9e1f4500c CLINVAR:102582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e412d89e-b319-4236-9d85-ef38b1230cd0 CLINVAR:102554 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 154dde1d-3162-4743-9193-5e04b3e047fe CLINVAR:102554 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4a769ac-2375-45a0-9654-b2040005c268 CLINVAR:133042 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e18b69c-66de-419b-9da3-ac4df1d25ea2 CLINVAR:133042 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca10eafe-7de0-4f80-bf08-f4df0e1db433 CLINVAR:590447 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b90a54b4-66e1-4339-a1b7-d3005a470c0e CLINVAR:590447 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 940f8f49-5ff9-4c6b-b3d5-afdbb3ab0bd8 CLINVAR:478199 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7647c196-780c-47d9-8763-836bc7890b26 CLINVAR:478199 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eda54e47-da31-4fc5-a500-9c0028bd9486 CLINVAR:65941 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27f25bb3-c89e-42b0-b387-6210f57d0d78 CLINVAR:65941 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff729d16-1704-4bcc-9758-b99ea460dbc7 CLINVAR:133055 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 918f6ad3-789e-452a-8121-8148e143a30a CLINVAR:133055 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 770e505c-a0f5-4c64-9215-3f4461895a14 CLINVAR:285857 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86b7c098-00c4-4302-ae07-d31a8f3d4092 CLINVAR:285857 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04122c4b-65a7-4087-9aee-cca5c475244b CLINVAR:133053 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f47053ee-087b-4c34-abf4-aa4e0a8b9915 CLINVAR:133053 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcafbb1e-ce19-474b-b1a0-5cced0a390cf CLINVAR:133056 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ff6a8ca-96a9-44a7-bf2f-142fa6f87d9e CLINVAR:133056 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b9d47f0-9487-4f08-b234-98acf32a9796 CLINVAR:654427 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc460953-eaa5-460f-b51c-657dc151b109 CLINVAR:654427 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ca74b6c-2029-4a6f-98f9-a8f4e09ef8be CLINVAR:478187 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f179e15-7609-45f5-9f24-f9369d26d606 CLINVAR:478187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29337843-3487-4762-893a-e5e52ab617ec CLINVAR:590453 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23a0c51d-078b-4908-8753-20699160b40c CLINVAR:590453 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a195fe25-b8e0-4031-ae62-848690aeb841 CLINVAR:133038 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b41be85f-cd16-4c86-8a8d-97c220981596 CLINVAR:133038 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f0607b1-3e9e-4355-acf5-dea92b20a5ae CLINVAR:133057 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e054a4d-71ff-4169-8639-45a39fd17cfc CLINVAR:133057 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9ae7b18-5e44-4e4d-80cb-74a5f768effa CLINVAR:133068 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51a63deb-0d70-43b5-be04-e40305ed6d6c CLINVAR:133068 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8545fb6-276e-499a-83c0-f5d7a7111421 CLINVAR:590405 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 677d4f24-3f46-46a8-b697-23d0f339ba56 CLINVAR:590405 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b46631a-4e75-49bb-b11e-5012045f6317 CLINVAR:590413 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98c5010b-255f-46f7-8e51-677df08e289b CLINVAR:590413 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cd9c4dd-220e-4d16-8358-2ac32b084741 CLINVAR:1120228 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cbef443-1870-4d57-adeb-1f7dc09df8c7 CLINVAR:1120228 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29b2843c-06ea-4085-b84d-8297542c1f6d CLINVAR:133060 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db28956c-bf3e-4001-83df-b7dce21d1705 CLINVAR:133060 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a862f62f-b16a-42cd-8cbe-8c678b79c154 CLINVAR:102754 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6327c800-fe9b-43ec-bad2-3acc998860aa CLINVAR:102754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b450c728-994b-4c82-991d-3ba8a10f2618 CLINVAR:605 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3909dd07-85f6-4ed6-b7a2-dc4097132571 CLINVAR:605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a8a967e-04ec-4237-9e60-14b9a0ff5aa7 CLINVAR:102808 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae57dc42-b803-4148-9279-9ed208078133 CLINVAR:102808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63c7fd96-3714-453e-920d-0a5972f25668 CLINVAR:102780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b0a4321-dd24-4dc2-9c84-b5c173292596 CLINVAR:102780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b56e001f-8163-42a3-b803-dddadb4633da CLINVAR:102496 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f73d74b8-f8ea-41e5-aec2-1b388a2b5335 CLINVAR:102496 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f4bfa1e-e8cc-43c4-b252-d2d1c5e16d02 CLINVAR:102484 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15b0a53e-dc32-4933-8cda-dd8cb9d8e17c CLINVAR:102484 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b56ba08c-a164-4260-8cc4-47f7feca0f1c CLINVAR:102494 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07a44641-06b7-41eb-a3f3-82cfa2df6a5a CLINVAR:102494 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae318652-a3df-4b14-8111-75891160a2c4 CLINVAR:102562 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d25ff09d-d173-48e5-b5b6-22f37f55216c CLINVAR:102562 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a2bc84-b195-43b0-aebe-56a77db128f7 CLINVAR:102580 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a44e043d-41ab-4867-92c4-9bfa746eef4e CLINVAR:102580 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2f3f5a8-0db9-431e-a0fd-63590b778921 CLINVAR:102481 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ceb807e9-a69a-471e-a49b-8471b6485769 CLINVAR:102481 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e938fdf0-55c9-45e7-9f88-9f2a4af40351 CLINVAR:102479 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df0afb88-d87f-455e-a59d-84dba8871d75 CLINVAR:102479 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae2f0640-3fe1-4c68-8075-ef5b6021c122 CLINVAR:102480 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14d3fc9b-09ef-41c9-baa1-664c142e71a9 CLINVAR:102480 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d500f14d-7e4a-4e0c-b36f-7203434f0e41 CLINVAR:102482 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 425df96b-5af2-45f0-b8ff-1c796c2c731a CLINVAR:102482 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfa93a6d-ada4-4aa8-a38a-d6283cc1d5aa CLINVAR:102755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d0b1a75-47d5-4fa4-8618-12aa03cf0d34 CLINVAR:102755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a343a1-d4dc-4aef-a562-a9a7028a83f4 CLINVAR:181207 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 045dfb42-fb83-4d01-b91c-7ad10a8ebed7 CLINVAR:181207 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5798b2a-97a0-49af-ac66-64a2a01078e9 CLINVAR:181282 biolink:genetically_associated_with MONDO:0008409 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12e3c6fc-e103-47c1-a4aa-a08f28170c43 CLINVAR:181282 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42222082-88c1-4412-84a4-f1903e56d5eb CLINVAR:42999 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b544cfd2-c0be-4166-8009-52ccedccc1c3 CLINVAR:42999 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34eb54bd-7718-4731-8847-fc31cde626b0 CLINVAR:181285 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c5dbfc9-81bb-4630-9024-70994d4d9017 CLINVAR:181285 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9816db34-2c0c-4867-940e-a69ae235a744 CLINVAR:14094 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90305db5-be6e-41c9-b2f2-d8884729683a CLINVAR:14094 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c16a07a9-ba1e-46cb-8af4-081499ee1591 CLINVAR:14113 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25aa638c-d592-4475-9592-1784c938829e CLINVAR:14113 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3915a625-a48f-41c9-a3bf-cddf3ab39ea6 CLINVAR:14118 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5e28278-2faf-402c-9b53-27aba774b0e1 CLINVAR:14118 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f192963-894a-4347-a2e7-bf9517207ca0 CLINVAR:14126 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a21b3da-996e-44f0-9773-e5c6f953860c CLINVAR:14126 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec04987e-df83-4e46-addb-ba2b4895530d CLINVAR:418517 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8dd6f264-ab4d-486e-8850-8cb63e29227b CLINVAR:418517 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31fa3e6a-e449-47a4-9cef-895bd6dd4d63 CLINVAR:185814 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8e79d63-c26e-44f1-b676-0c2fa0b48f7c CLINVAR:185814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15cab942-fcfd-4ff0-8d8a-62b8d5fe2a1e CLINVAR:656751 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d30ee389-3408-4acb-a005-7ee2b7c5ccd1 CLINVAR:656751 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a10fde31-c9a7-4baf-8c8d-e9d9f38c1813 CLINVAR:186587 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73654411-d743-4543-bbd5-32e15b44182c CLINVAR:186587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85725e76-f1ce-4ff8-b05e-e27cf7b329f5 CLINVAR:142714 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d8f76e6-176d-4597-9052-df8a66b0a69a CLINVAR:142714 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ce83d4-b08a-4fa6-a5ab-e9182fa37428 CLINVAR:218342 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23afff60-e773-4a5e-b51b-d878f7781774 CLINVAR:218342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c71c10b9-5fdd-420e-a724-484fd4b4515f CLINVAR:1172924 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1689169-fc52-4380-beb0-0e0da739ec2d CLINVAR:1172924 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ae76fb5-b801-4662-93e5-b348dcad8efe CLINVAR:1019612 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c1785e5-49e1-4445-98d6-91c641a582ce CLINVAR:1019612 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a5fb47-5633-4e10-8139-afa628afbb9c CLINVAR:182933 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af7e32ae-b440-4ea0-bacb-6639c70bb1f2 CLINVAR:182933 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88cf3f90-8018-490d-ac2e-9dbf875b58ef CLINVAR:182938 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen adfa5d5c-b921-4c57-8bc5-6c2f689b01d8 CLINVAR:182938 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b23dc9-6f2c-4a1b-9f67-bc7354f82fb1 CLINVAR:182953 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4edc922a-60f0-49c0-8750-c182f4e06dd6 CLINVAR:182953 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3662efe7-fd87-499d-8e9d-37d04c9ed68a CLINVAR:188342 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15085f96-f476-4224-83d3-5df6cc68b7e3 CLINVAR:188342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6a63e49-9895-42f3-9375-e706ec617f0f CLINVAR:413774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9faf8381-466c-4cb8-87cc-0aa0cc40c791 CLINVAR:413774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db83e6dd-da06-49e1-9e81-714fc0311537 CLINVAR:161273 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d856fc5f-dcde-4504-b91b-8143f2b19187 CLINVAR:161273 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 345c62a1-ff0c-4dce-a69a-8d92c8a0cc95 CLINVAR:375775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 126eaac2-b753-4b95-bff9-89f9d43a6448 CLINVAR:375775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26aa583b-23f7-42f1-8415-c68de13c1da2 CLINVAR:252350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 164df14e-d3d9-422f-a406-c75a5fda93e4 CLINVAR:252350 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65553f70-eae1-4c77-8728-1b7585424c9f CLINVAR:3734 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0615e7b6-17b2-431c-a969-9b7b6c3fa878 CLINVAR:3734 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfb3d621-e006-4d01-81a9-a2ba046ef389 CLINVAR:36462 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d958c25-7ab8-4a83-996c-d879a668dce2 CLINVAR:36462 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0f8694f-34a3-4a4d-8a8e-63b0a660da01 CLINVAR:252304 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61580a0e-95dd-4d8b-a90e-47a1df92c4ae CLINVAR:252304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 094a8100-6c21-4056-90e6-6ac69db0c626 CLINVAR:3744 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd03fd6d-114d-45cf-bcb4-9c0408564c63 CLINVAR:3744 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bf8a426-aabc-49ad-8bd7-88b1de16461c CLINVAR:183130 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5afd56cf-72fb-4f58-afd5-1bad77e3f969 CLINVAR:183130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 280dec92-d3b7-4064-80de-5a20b7348b32 CLINVAR:252219 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a911f09-04a3-4432-9d4d-04425e4bc760 CLINVAR:252219 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb389686-ff80-4a43-8546-e738d4b54582 CLINVAR:252188 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07a1d18a-b836-4720-910f-0aea1919c619 CLINVAR:252188 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 874af2ba-4e63-4334-97c9-73e44474e26a CLINVAR:3689 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77eb1bdc-ad5e-4598-952d-26d53ffd55a4 CLINVAR:3689 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a820a05-7fdf-499e-abda-49caa135ed29 CLINVAR:252136 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68f13266-3d25-4b87-847a-f59d5088db0e CLINVAR:252136 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7670437d-6ab5-4e80-8944-04f288d035e2 CLINVAR:252135 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 560e27d1-44cb-40bc-a4f1-e9e53eb0fa35 CLINVAR:252135 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2487267-bc06-4ad2-9bfc-b17fb850972e CLINVAR:252083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74d4f392-44a1-4f80-83c9-07a39c57f27e CLINVAR:252083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de436a8d-a02f-402a-bb6b-cd0694b19eda CLINVAR:161264 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99f414d9-c00b-42b0-94fe-6cb4a5f6037f CLINVAR:161264 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b3c3113-c79a-457b-9f4b-b8488db9aabd CLINVAR:161290 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee772ba8-1901-4a5f-a7c9-6e35449c51a2 CLINVAR:161290 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9b88eb5-6306-43f2-a095-e800a3950fee CLINVAR:161271 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d555f2f4-e586-49e1-b402-c2c312a57ab6 CLINVAR:161271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40f24aac-33dc-4f9e-afce-476f9a35838c CLINVAR:183120 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf4d0b80-0906-46a4-b739-023ef2fb2ee9 CLINVAR:183120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95aec61a-3e90-4ef9-8709-26cb21c4ab1c CLINVAR:251783 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdd3fa05-750d-4247-bd5b-7222eceb354e CLINVAR:251783 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a099569-d379-480c-9f7b-eb61687feaf9 CLINVAR:161276 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc3f115f-5468-42b9-ac19-6f28f2c9d634 CLINVAR:161276 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0844cff1-6ba3-416b-9a42-00128ab128b3 CLINVAR:36453 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac45ae8b-589b-4d75-b561-3f8cc764a503 CLINVAR:36453 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78887dea-344d-4162-b688-032ce2b9a59c CLINVAR:228798 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29b4173a-8d13-451e-a982-2579d4637eca CLINVAR:228798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db14d2b-44b2-4c49-955e-fec3b4fab158 CLINVAR:3746 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a500d38e-9989-4950-a7bd-032b6f40112e CLINVAR:3746 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7be3ad44-39c5-47e0-b707-cef87f7b8974 CLINVAR:251706 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8da09553-c0c4-4594-91ec-912dd20802cb CLINVAR:251706 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7080a77-2563-42e3-bfdc-2920eff30886 CLINVAR:36450 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdcac37a-b28a-4f85-a3a5-b5a7c4c9a0aa CLINVAR:36450 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb61e45-8be9-4ae8-9e67-029ed1599c6a CLINVAR:161282 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e69b5959-a27a-4e09-9244-fa10a82ee5d7 CLINVAR:161282 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c9cae03-7f2a-476d-99b0-f83244175018 CLINVAR:251517 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a8827e2-8803-4bb0-99f1-4c66f9cd2db9 CLINVAR:251517 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7d8086c-eb6e-4bcf-aaa4-5dd5b5694cb5 CLINVAR:161281 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c54c35f-f08a-4339-8d39-5932d3ad84e2 CLINVAR:161281 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d3e4468-5956-468e-8090-b7cb26e3f8e3 CLINVAR:251603 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 799a65b5-d200-49ce-8ad5-b21629b5f796 CLINVAR:251603 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c310b78a-56a8-491d-a6cd-cca878365382 CLINVAR:161268 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a0bcded-3ec3-4728-a486-b075b7f39b38 CLINVAR:161268 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2e4d567-4aa7-4300-aed7-c9424e39f5fc CLINVAR:251106 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0c352f0-e637-4e84-9b7a-3a40d65b5c7a CLINVAR:251106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00339592-9569-40ed-a925-aeb55e9cbf42 CLINVAR:161287 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d1206ae-9b4f-4557-86ba-c0ff81ea49ab CLINVAR:161287 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 397b330f-fb89-4a90-bf00-157608a2faa3 CLINVAR:161261 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07ddc810-d7a4-460f-b2a2-48dd27700402 CLINVAR:161261 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38c7b214-2ba3-4a44-bb1d-f8727176bb1a CLINVAR:251422 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 497d357e-8b05-4c2e-8787-81d0dc72f24c CLINVAR:251422 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bee6adb5-9e1d-43f3-9c23-6453d6479a69 CLINVAR:251400 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4c734f7-b663-4ab7-8c3f-b3663cbdaf2b CLINVAR:251400 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecdc9f0a-57c5-49ce-a0e2-55eb899535e6 CLINVAR:225402 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 288a99e1-25f3-42bd-9ea8-187f503638d0 CLINVAR:225402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9301daa8-5f52-4f8c-aedd-e66e21968e45 CLINVAR:251162 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d982198f-d069-449e-93a4-586b40d1ad40 CLINVAR:251162 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ecca54a-495f-4f12-bc74-069752911a11 CLINVAR:3736 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4567aaf2-9406-48b6-be74-9f20f2ba8139 CLINVAR:3736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 064e10c4-a013-4146-9f4f-7865de3c0086 CLINVAR:161269 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 702c0b3b-9a63-41d7-946b-15bb88228aaf CLINVAR:161269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77688d87-c0c8-46e5-9c11-dda517985e43 CLINVAR:251100 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b05fb0e-0693-406e-926f-793ee093f757 CLINVAR:251100 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1e10a76-4fd4-4f35-b71f-53bec13b1d99 CLINVAR:3685 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e0f7365-fd47-4771-9fe0-33567946b578 CLINVAR:3685 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05689f0c-45b0-481f-b3de-74b5cb897a81 CLINVAR:161289 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7750d29-8667-43e3-aaff-381d16f4f35c CLINVAR:161289 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bbc7dc7-0d6e-440b-b3a9-35e1559db247 CLINVAR:251034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c59f4653-a420-4e4c-ac2e-a47b06d9e873 CLINVAR:251034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 262ddc0e-6e60-4c2b-b76d-361d23342606 CLINVAR:250968 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d951da2d-a3dd-4ace-b6d4-c82c84622c81 CLINVAR:250968 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 949a314d-f719-43d9-a672-73e806df379c CLINVAR:102610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08dab9ae-24e5-458f-befc-5a5eae1025e9 CLINVAR:102610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ceadf5f-027c-4e2b-aade-abed9dadadaf CLINVAR:102627 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26acdd27-6690-462c-9346-be1e8656e40a CLINVAR:102627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5e7730b-79a2-440b-8ad9-3044bef7e86e CLINVAR:102766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef9a0cca-ab64-42a1-b678-d4d42cede280 CLINVAR:102766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40675d0a-a419-4880-a01f-59ce1487ea3d CLINVAR:102488 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 902c34cc-8779-4aba-9225-675e54d683cb CLINVAR:102488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e7a4d55-3fb7-4bba-9ee5-ddd9d1d91340 CLINVAR:102521 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd0f5d1f-8734-4b47-a819-25a681e61b01 CLINVAR:102521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a8dcb5-8883-44c5-acc8-56e51c18549a CAID:CA16020794 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a43431d-8cc4-49ec-9b97-331298dce06c CAID:CA16020794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a72e5250-b424-47ac-87d2-eb80b5cd6c4a CLINVAR:102600 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f35ea2c-fc9c-41f8-b03d-05114a54ab35 CLINVAR:102600 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2081777-e9cc-449a-b4c4-584030166d5f CAID:CA16020963 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08028b39-3ff6-4503-8486-eecbc36d4de3 CAID:CA16020963 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 691549c8-ea97-4a00-b9ab-2a7f8f7f1594 CLINVAR:556817 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bea2fcc0-c880-4b36-a4d3-17d6d621a525 CLINVAR:556817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8f1a34f-ddd6-401f-8cc4-3a097adf7640 CLINVAR:14121 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 562a5481-ed56-40a1-8f70-ae884021b7cc CLINVAR:14121 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83408ca2-1e9c-4e67-979c-215d5ee6dabf CLINVAR:214322 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ac29165-177b-4e54-ac0e-780bb651a454 CLINVAR:214322 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fc85c0b-601d-43b4-b555-3981922f3567 CLINVAR:496427 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cfec5e0-b25b-4c35-a9e3-ef9438526b09 CLINVAR:496427 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3fbe8e8-c0fa-4b35-a225-433363edd9ad CLINVAR:504502 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9db54d1-46a3-4bdd-a2b1-b67c7dedadb3 CLINVAR:504502 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f9c0ad2-9612-4014-b29b-d815ab036cf3 CLINVAR:1210168 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aabfa861-5034-42af-a01b-4124bedcce53 CLINVAR:1210168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b45f0da7-2122-4748-adc8-39517121b4b2 CAID:CA772541579 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e38280d3-9d8c-4704-a4f3-d6a619b6fa72 CAID:CA772541579 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 859f6a62-b3da-4270-ad61-25f5963b9014 CAID:CA290954030 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8dbe524f-1289-4d8d-9ac4-b55e42abeae9 CAID:CA290954030 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdebf355-1589-43a1-af22-20034adcff7f CLINVAR:627288 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 457d7417-e3ac-4577-9264-4fd98214cf80 CLINVAR:627288 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9213dbc2-9cb9-431e-8940-4f90947e3fb4 CLINVAR:13568 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 956c8319-d325-42de-9b96-c22aa2b8afd9 CLINVAR:13568 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaa17707-f8a0-4c28-9239-0183e0da68a3 CLINVAR:1210185 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f82e6db-cf60-4abd-963b-c4e6f3add2d0 CLINVAR:1210185 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa55f539-5d9e-436c-a130-e3d6ea05326f CLINVAR:695644 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5e2ed2b-9b38-4619-84a4-ec67a4476e6c CLINVAR:695644 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1a2f2d2-3168-4443-92fc-1eecdd151743 CLINVAR:13569 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64f9e18c-effd-41dc-b6d8-e36b1c109cf8 CLINVAR:13569 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3005ddff-c8dd-4d5f-9ae4-d5b67c1df9be CLINVAR:1210201 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb942148-2e22-43bc-aade-f953a1bdc760 CLINVAR:1210201 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb6212a5-b18e-416c-854c-8f3ab77020c0 CLINVAR:627052 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ab2d2d3-7f91-4fab-9fc8-33d7bc2ab2de CLINVAR:627052 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41768780-a885-4aa4-8b5b-bc15aec3d49a CLINVAR:1210202 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e93e933-7582-439f-ada4-6c7c1a8c0e85 CLINVAR:1210202 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d136a17a-8791-442e-a90e-c5e76b7e7c4f CLINVAR:977130 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0c046a2-a405-421a-aa13-79274702926d CLINVAR:977130 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26d8fae1-710f-4fc8-8566-58268b90cfe3 CLINVAR:13555 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aeef75aa-d2af-4b29-a27a-e5f251c33525 CLINVAR:13555 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35cf8a45-4781-409b-8afa-aa94dc4a9a74 CLINVAR:13553 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59c29c2c-6c0b-4736-af71-6897e278ad60 CLINVAR:13553 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0f85c69-08ab-47f3-b108-4f59c0c015f6 CLINVAR:1210203 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6fe8aac-39dc-4cc3-9fde-b92c383fcea3 CLINVAR:1210203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f68977d0-6585-4695-af1a-09875b350829 CLINVAR:977129 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5723ccae-d450-4582-8478-a421bd5d336d CLINVAR:977129 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c260db97-ee0d-4cab-a859-60ca1520027d CLINVAR:323865 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07f218c5-6254-4cda-957b-8b789ca82e40 CLINVAR:323865 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d61020f7-6707-42e6-a277-3c039dfb00e6 CLINVAR:1210206 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 369edbf3-25b0-4a3a-8389-41a956dc3f1b CLINVAR:1210206 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1e8cc3e-511c-4442-b6af-ac138719fc34 CLINVAR:556718 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7aa43f07-e831-4ba7-a3ee-47a43fe0980d CLINVAR:556718 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3218c317-8250-4e62-bc01-e5d21607fd56 CAID:CA915940722 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7aa5f62-b544-491d-a737-eb4830fdcab5 CAID:CA915940722 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 814d36f2-a35c-447e-ba51-91230b5a9e85 CLINVAR:1210169 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bea32fe2-7101-458a-8334-422576807b28 CLINVAR:1210169 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 661f4105-c9e6-4fd5-8371-85080d544eef CAID:CA400023704 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 274440d2-f7d4-465f-a3a7-d83053c61620 CAID:CA400023704 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 462eba2d-25af-469a-af7f-f3a1bc63628a CLINVAR:1210171 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8acad929-9d1c-49a5-ad58-28fc72c2f4f9 CLINVAR:1210171 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca46f7ec-5296-4a31-8bd5-38cf90b95d43 CLINVAR:1210172 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90961e65-1a8d-4829-82a2-20f74ce889e3 CLINVAR:1210172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc102f1c-eeae-4956-b961-e4718d484974 CLINVAR:1210173 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a367ba5-c592-47a2-8f49-3aa06909c31a CLINVAR:1210173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b40b24bd-8134-4a0f-b85f-eea34264c96b CLINVAR:1210174 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49757f68-8a40-4d3c-904b-cd01497e640f CLINVAR:1210174 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f689136-0f3c-453d-8333-92edb02a186b CLINVAR:1210175 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c89901aa-98ae-48da-bc8a-94d1622d53e8 CLINVAR:1210175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab6a21c-98cf-42d1-924e-5dd873cacdc4 CLINVAR:1210176 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b4a638b-37be-47f3-b7de-5ef0063db7ca CLINVAR:1210176 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9074386-5390-4ad5-988a-0c3ba0b22748 CLINVAR:1210186 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9729b037-d59e-4b86-ace1-401e4d24b7b5 CLINVAR:1210186 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caa05e76-e1a8-4159-a894-8b7f4414bcff CAID:CA915940376 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ca56ccb-f3f7-4ec2-80e8-d1b96b6a745a CAID:CA915940376 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen febec79d-fe72-41d6-9fdc-c68fca8bdf9c CAID:CA915940375 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab358cbf-d5dc-4701-95cc-00b3352cb612 CAID:CA915940375 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e620cc3-0298-4378-9e7f-b1d201aee575 CLINVAR:1210188 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14d5ff80-2782-41d4-a3ce-3f7d6b0b333a CLINVAR:1210188 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b390a46-3791-4a50-95e9-eb0504a2f7ed CAID:CA915940723 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 975fedb9-253c-4f3e-a1c9-a43c8389ee34 CAID:CA915940723 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03512b92-d4cc-4e8d-9e82-1ea3a4b513e4 CAID:CA915940724 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56b363b6-4fb0-4cce-8b94-57cc2cbedfc2 CAID:CA915940724 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b18edf87-3e25-4527-a515-254a382f9b07 CLINVAR:1210191 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5be861d1-fb29-4e70-9d9c-f5bbe3d5d302 CLINVAR:1210191 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2a9507-b3b0-4ac5-ad21-e868b99839ac CLINVAR:1210192 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a53ce4dc-4103-4bda-925d-e0993c5b3d0d CLINVAR:1210192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b2abba-fc00-4988-9eba-41a307dbc51d CLINVAR:627239 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0794ce49-db68-4edf-8b28-1738b2aa27f9 CLINVAR:627239 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fb37fbc-71ae-4ada-ae1a-fa82bc25efef CLINVAR:2902 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5ddee64-2757-4b78-b84e-323e9fb7aa7b CLINVAR:2902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d6af99b-5048-41cb-90d0-9d95046c5211 CLINVAR:631773 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7152e93-d119-4e4d-8c7f-161811c5ff9b CLINVAR:631773 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea1adac7-8576-417c-acec-f13631051a14 CLINVAR:977127 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68ef2a69-4249-4093-bdd5-cd97d1e59a63 CLINVAR:977127 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ebc32c4-6dd8-4c5b-a793-81b28e4335e8 CLINVAR:971253 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47809cc9-4b12-42c4-9e5d-8fa9a84d60a6 CLINVAR:971253 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2bcd830-ca43-41b8-b697-43d828b3243d CLINVAR:627292 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e3c2dad-94e6-4bad-8612-46bf275d6f43 CLINVAR:627292 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fedd5910-9a27-4367-add0-a9168dd1c8b8 CLINVAR:1210204 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da0c6f59-f4a6-43bc-b0db-5a6c67370b74 CLINVAR:1210204 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 584f98e8-da0f-4431-93bf-0b448c6cbf0c CAID:CA399803781 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c26cb99-e107-430d-ae04-560e0ce4fe25 CAID:CA399803781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 774ca0b3-f29b-462b-9cd9-8637b056c66b CLINVAR:458368 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93243cdb-b10d-4681-bb70-c7ce7a5d5402 CLINVAR:458368 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86fa3106-14f8-44b0-aed3-304c6105bc1b CLINVAR:627093 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 725b61f5-2395-4375-a229-dde75fe2f746 CLINVAR:627093 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ebe210-fef0-4ae2-95a0-579f42366028 CLINVAR:977128 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c66772f-4344-42c1-ac19-cffc1183c405 CLINVAR:977128 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55184ceb-bf56-431e-812e-5e9247244d28 CLINVAR:2889 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 936bc68d-fc11-4683-a76d-6df4e9876102 CLINVAR:2889 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66d12c02-c850-4fd4-be3d-27c756db75f6 CAID:CA400033218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e2f8735-c04c-460f-90e9-590215f1f500 CAID:CA400033218 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f27dc4bf-44a6-4398-a3aa-0737d24bc00a CLINVAR:1210209 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f193263-2d62-4577-88a7-da28a35e21e8 CLINVAR:1210209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b899d37a-5a1c-45a4-84af-9a4f9eee3a8b CAID:CA291224645 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94757acd-e83d-4433-974e-d13eb74dd423 CAID:CA291224645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d254a4fc-208a-44a0-a1c0-5b005fae3476 CAID:CA400023604 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 093a1b8f-3722-4c60-9611-a619c25b75b3 CAID:CA400023604 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67670910-b2b5-489a-b0e2-227f0d2b239e CLINVAR:800945 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d44a09e-a374-42c8-add4-e0bcdda4219d CLINVAR:800945 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f900de-ce73-40b2-80b1-37c04c870cc2 CAID:CA915940593 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0abdc0be-61af-409f-bcfc-2db584ee3c39 CAID:CA915940593 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 903c4de5-9c72-4bf2-bdeb-a9f93d23cf9b CAID:CA290947484 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47cee247-bee4-48de-8e56-5cc3086bb8ef CAID:CA290947484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35084482-43f0-43b3-8abf-54f2f6db1656 CLINVAR:1210180 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90b213bc-6254-42d3-82fd-c1a945c61539 CLINVAR:1210180 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 055f3172-a3b6-42d6-9e25-3a16fe8253d8 CLINVAR:1210181 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 134ad1c8-d467-4a12-88bb-3ef41e429633 CLINVAR:1210181 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb4222ca-8857-4c00-851a-5fa64142d0bb CLINVAR:1210182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e74724c4-134d-4c99-90c0-64af91c78e72 CLINVAR:1210182 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c14dc3b9-706a-4105-97b0-a6de6c6d6180 CLINVAR:1210193 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen addc7998-31d4-4397-8fcc-f5527a1861bf CLINVAR:1210193 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 917b59d4-3334-4568-8481-dc9b836a3282 CLINVAR:952998 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d83da599-f5bd-44f8-9ecc-9a6fee5c8afb CLINVAR:952998 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7338d2a5-6d44-4582-8dd5-3bf8a637ccc6 CLINVAR:953028 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a78a19b3-aca3-4f08-8ef8-19095f7ddb55 CLINVAR:953028 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c08ad338-934c-48fa-8a48-0ae48cdf8d86 CLINVAR:953032 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 363d4c47-346f-4e1e-9dcb-bab8943fbeaa CLINVAR:953032 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4b6a5c3-66bc-4d76-99d2-d1929517fc69 CLINVAR:2903 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4be9b2c-2456-468f-97ee-3f1e0588720b CLINVAR:2903 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a17a881-cbf9-4813-964a-fd6b9eed6a81 CLINVAR:627296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25aebd4e-2b45-4474-b997-cec747b6b7b3 CLINVAR:627296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 273da93e-2eef-4d16-96b7-6be93cb66b64 CLINVAR:953037 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3816140b-fcf0-4982-9f4b-edfc55e7b10d CLINVAR:953037 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 061224c8-2b83-40a6-ad47-e24fbc23a8e3 CLINVAR:13564 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 246f8ed6-1088-4c93-acc1-6321dda82433 CLINVAR:13564 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8540458c-8283-44c4-8823-951095e8baa4 CLINVAR:953016 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27dfedd0-f757-4ea3-9f07-7027872e2dea CLINVAR:953016 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6b4eed-97b7-4bf2-8010-e29a8a4b1fd3 CAID:CA8623361 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0158ae2-f13f-47fe-a61f-01a6323e956f CAID:CA8623361 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa3e139e-f170-4fb3-81ac-a4616558eccb CLINVAR:953046 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ebac0bd-b5a0-4440-ab52-612a81d1fa0b CLINVAR:953046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be702ca-bdc4-4504-845c-c2f7400545ba CLINVAR:977132 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3554bc18-beed-4cde-a5fa-debdf1866532 CLINVAR:977132 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33f6c629-28ab-4353-877b-4bc5d259ed5e CLINVAR:1210195 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6311b6d5-315f-4755-82b0-ec1ae5045c6f CLINVAR:1210195 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34dcd17f-94e7-40f5-bdab-285945f61a91 CAID:CA915940296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e646f6b8-d4dd-41df-8ab7-d78d8cc9cd85 CAID:CA915940296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21af4672-4ab0-410b-a7c4-238bba903ed9 CAID:CA915940787 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6385f74-8080-4d90-bd8a-1a86c2eb4721 CAID:CA915940787 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a5c3704-78bd-482f-95c8-a50465445f6c CLINVAR:1210198 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11d62c8e-cb15-45c3-9fa1-0c31ed3116ad CLINVAR:1210198 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ab5cc9e-70b2-4498-89fd-dfb033d100f2 CLINVAR:850886 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e34ec31e-cae8-456f-b007-66a642eb1a00 CLINVAR:850886 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc2be040-82be-44f6-bc99-0e4a0d794cc6 CLINVAR:1210199 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 743e5403-f7fe-429d-8e15-dba8ef40f2f0 CLINVAR:1210199 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6930bfa-a9e3-407e-b86c-1bb161264847 CLINVAR:1210200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0f9d07b-afa3-413b-a43a-7ea96fd695aa CLINVAR:1210200 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 982a5441-f7d9-4a64-89be-206ed79c117c CLINVAR:2898 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 803137dc-dcb4-477c-a4c5-2affa3354cee CLINVAR:2898 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17db0c59-5deb-4c88-908a-854d5f145a61 CLINVAR:2894 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8b53720-8cea-45b7-9db6-921950c277c8 CLINVAR:2894 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a48f6f4-37c4-406a-a9fc-f584e264eeeb CLINVAR:854735 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 500b0030-0631-47ef-885f-492b9cd4c9d7 CLINVAR:854735 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 304fa7fd-e80a-494b-b024-4d2736b127c6 CLINVAR:13567 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 447340f9-4aef-44f2-91fc-9d7cd1d010ac CLINVAR:13567 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3f6c1d0-3d27-4da8-aa59-40485cc726a0 CLINVAR:1030781 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27e03768-866c-4f86-9335-143265613187 CLINVAR:1030781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c61811-62ea-43e2-aba1-9494316581cb CLINVAR:627273 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2da26785-3dbe-4788-a588-50c852127291 CLINVAR:627273 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 940d077b-a01f-47b5-85f0-406ed5b7eec8 CLINVAR:1210210 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f927a353-895e-4c16-be47-599bb87a69c7 CLINVAR:1210210 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 348bd237-a0fe-45a6-bda8-785fe80dabe5 CLINVAR:2899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c977cc70-15c3-40dc-9a79-9f54606ab472 CLINVAR:2899 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b2ae867-a434-4de8-9aaf-0c00ca01bec2 CLINVAR:181368 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4952e944-9271-4e9a-96ec-503b3d282b9c CLINVAR:181368 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f74c33dd-fefa-4b49-b0a8-a2b8b6dbd94e CLINVAR:42826 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27dba8a2-60bc-490f-8444-00f81e69091e CLINVAR:42826 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89bd2594-842f-400e-8ed4-b71507d09b07 CLINVAR:43100 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a20a670-d57b-44c6-bf42-4b7cf136782c CLINVAR:43100 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c499a16f-7f80-43bd-a0ac-89e99a9b20d0 CLINVAR:181195 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be9f4280-aaf3-4597-8692-004db5eebaf9 CLINVAR:181195 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56d26177-1b51-4e50-b711-b2654866a1b7 CLINVAR:217468 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59bbee07-e6b3-4c2b-9e0a-253705732225 CLINVAR:217468 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0c9d497-41f2-4561-bbbe-09939a6fb839 CLINVAR:164289 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8335291d-4e94-4cfe-9439-e3e8f177794b CLINVAR:164289 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11ec5256-ca18-40af-85cd-26e5876e54bd CLINVAR:14093 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1850c80f-e9d7-4fe3-8e5d-cfd006cd1d0f CLINVAR:14093 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2202fa53-2148-45e6-a90d-40023190c952 CLINVAR:36638 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e854d02f-f6cf-4203-9fd2-f176906e5551 CLINVAR:36638 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 974b1341-83c4-4254-9a5a-23775311b36d CLINVAR:42818 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f8e29e5-04a4-40e5-8996-0fffb501562b CLINVAR:42818 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e8a5c1b-9ed7-4316-9c15-9026897c2b9b CLINVAR:36637 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 288c4141-69f8-41c4-85d0-1fe9f44c7300 CLINVAR:36637 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e42c906b-0d0e-426e-89b1-53e27b556756 CLINVAR:133165 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abb96209-60df-44da-90c1-4783fc14cc5c CLINVAR:133165 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddb969fa-ea8d-41b6-b025-02967e712c81 CLINVAR:374974 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8718bc3-bfbe-4b35-b428-e35d5919db3d CLINVAR:374974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 931366e1-6c07-496e-ac43-92e99f03f79c CLINVAR:590517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34bcdc6c-ed2e-41ba-aa1a-2570aa4ba4cb CLINVAR:590517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8826b998-0844-4748-b2b7-19b3cc6b39ac CLINVAR:133168 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d199913b-0417-4682-b7fb-18144823fcfb CLINVAR:133168 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bad0c8b5-1066-4a33-a23a-629dce107eaf CLINVAR:590482 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c19d836-9ec2-4831-8b6d-6cdf9a3baf25 CLINVAR:590482 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 207f2d79-5a4e-4682-94be-afffc3633772 CLINVAR:1050940 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 704adc0b-b601-41d8-8de4-67b473dca8d4 CLINVAR:1050940 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5bbc3ea-2d79-4874-9d6a-bd5d7735bfcc CLINVAR:808527 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0633c3f-ea72-4019-a2a7-50db4abd83ea CLINVAR:808527 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a006c5b5-83a0-41fa-951c-8973c6f7ca97 CLINVAR:133146 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac7a87f1-014f-4fa1-a6b0-8f439993615f CLINVAR:133146 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d6149c-45c0-4fb4-83ea-eccef14b5318 CLINVAR:889434 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 470f1110-d3a3-4395-a866-0f4bb2cd1124 CLINVAR:889434 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 993f2835-cd52-4f5f-a01a-f657493d1b89 CLINVAR:133166 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45c5dd28-6af9-4088-99ec-30b2d183771d CLINVAR:133166 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f50d381-6152-4b4c-a30f-972eabcda119 CLINVAR:478249 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4808a63d-f1e9-419e-931f-14f6e6a78e35 CLINVAR:478249 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb2d56a0-39dc-4683-9faf-363a117f4f43 CLINVAR:1210307 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c11c8044-e9df-4c53-9f4c-448fb4e8066a CLINVAR:1210307 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba12f90f-6893-4caa-ab0c-8abf3d4ffbfd CLINVAR:1065119 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b385c8e-f06b-4310-bbe0-c6a85d3dad2b CLINVAR:1065119 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f615b8eb-11b4-407d-b966-37cb33d05026 CLINVAR:590575 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c338158-091e-4f80-80f3-2cfe76cf5a0e CLINVAR:590575 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84d6e3ae-7465-4b15-968c-be1c06337f87 CLINVAR:65968 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b91fdb0-8937-45e7-9b02-3a116461367f CLINVAR:65968 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb361c20-3e34-4671-98e1-b9037f6d2fba CLINVAR:567662 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 355d7e3b-1de3-4595-b348-6d051773a09b CLINVAR:567662 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39de76ea-03bf-41e7-ae77-531aa2cedf31 CLINVAR:590454 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b698030-f9b5-4722-8845-d84003e66de8 CLINVAR:590454 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b97902da-933a-46f9-be43-82b37c00743a CLINVAR:590556 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77026041-9aed-4695-ad19-d68064998305 CLINVAR:590556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9851a2f-3d26-4087-a0b8-a6c78dc8ccc1 CLINVAR:133185 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b01539e-6ab8-456c-ad20-19f4173ab895 CLINVAR:133185 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e37050c9-b983-4d11-a854-9248182d2e91 CLINVAR:133179 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c535699f-4250-447d-b2e6-b9264de66f6a CLINVAR:133179 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0afeb873-ccb6-4797-b4ae-9eeac8e28a7d CLINVAR:167614 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3683f633-de10-49d8-b3d7-baa054250e54 CLINVAR:167614 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aedd7e8-b534-4d84-a005-9a6f0064459d CLINVAR:133081 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0ca4e3e-aff5-4573-abde-2b7782322aa0 CLINVAR:133081 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbf981bc-3517-494c-bc7e-7b6e35d0326a CLINVAR:590580 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e1fce4b-b00d-43e6-ae0c-f6ed600ad839 CLINVAR:590580 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 442a8c8b-8987-4c00-82a2-b7ed0bbae4d5 CLINVAR:1210316 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e70591a8-b76d-4020-8e31-9d8dd367eefa CLINVAR:1210316 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0640b11b-d5e4-41fc-993d-7e67ef18d1ba CLINVAR:1210317 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22a513a9-4cfb-478a-a490-11a686e9f0c1 CLINVAR:1210317 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f8da7d-5cba-4d8f-9c9c-28c63ad7be6a CLINVAR:133172 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15b280fe-7fce-45e5-acee-b39fc5de75d5 CLINVAR:133172 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9334e77-99f6-428e-afc3-6a194af3b44d CLINVAR:133126 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91967a03-e141-4701-b49d-f5005355192b CLINVAR:133126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63751c6b-8e52-46f2-b866-bfd245bbe1b4 CLINVAR:133018 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e66aa4a-ee5f-4ea4-b59e-d4c7bec538c7 CLINVAR:133018 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5a11d8a-dcee-4af2-b3b6-2d87508c3b3f CLINVAR:133124 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e88e3c5f-63a6-4d01-a6f2-17c2f2bda8ca CLINVAR:133124 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 788a2133-e9e6-41fd-90bc-a03f7160b45e CLINVAR:1210308 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92a50aac-bf95-492d-802b-bbff20322cb2 CLINVAR:1210308 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d990789f-8de3-41e8-bbdf-f42ff6f7f905 CLINVAR:133135 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 696e5ce7-a3c2-4e97-9432-5c54a641ab76 CLINVAR:133135 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d24799b9-bd62-421a-aea7-8fb86cccb2ff CLINVAR:1210309 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b550512-fbb9-4c2c-9dfc-389400615cf7 CLINVAR:1210309 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fce06b6d-8cc8-4441-b5ad-5cc8106aec5e CLINVAR:133145 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7696f9e4-5d45-43c3-8b6b-09cdbddaa322 CLINVAR:133145 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 492ef420-bc9a-4b8c-bb29-2c79ab8c472f CLINVAR:133150 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1246fcb1-ef7d-4feb-b264-ca02304773e6 CLINVAR:133150 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dd19c48-c822-445e-bd12-e3ee5b034cee CLINVAR:1210310 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b378311-ca5f-472c-93c2-e611b8630599 CLINVAR:1210310 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc048543-dec2-44e6-9a80-9ec9f690d208 CLINVAR:1210318 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc71f161-c486-4015-a686-b1bfb264d1b3 CLINVAR:1210318 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8efd5a9f-9bb8-4dcd-a597-9ca1a10d8841 CLINVAR:1210319 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35a9df70-9529-45e4-a56d-a3f9941b8a85 CLINVAR:1210319 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27225173-33a3-404a-b4b0-df175e0c7280 CLINVAR:133158 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85954839-e4a1-4100-8794-29fae6b79dff CLINVAR:133158 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 148eb586-98cf-4d68-9726-cc0ffe06e0f9 CLINVAR:133161 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29db686a-7372-45f8-9ed2-6ea67ec36963 CLINVAR:133161 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47b89355-56ab-4ca9-bb74-1913b80a8b31 CLINVAR:1210320 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87c56525-ffa6-4e4a-b6af-b1490843e4ee CLINVAR:1210320 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 709c7711-96ed-48be-bdef-bfd356a83661 CLINVAR:133157 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc154906-648e-4f5d-922c-2cbf5bde2176 CLINVAR:133157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db849471-29b5-4c31-8892-5feff1e07f29 CLINVAR:133162 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen baf27215-0dcd-4a6b-a985-249ac1a74a5c CLINVAR:133162 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13b196df-d342-4fd9-80dc-85a56c905323 CLINVAR:133159 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb986b18-9cb4-4a00-afd6-6f026d169115 CLINVAR:133159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89eda544-306d-4790-b890-3686da4c58d4 CLINVAR:133017 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e7dff3b-a69d-4b64-84d5-89b32663e68b CLINVAR:133017 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fec7bb6-fe56-4994-9856-85b968dde10c CLINVAR:1210298 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea6be5e1-c3f1-4559-8f23-3cf1661796ee CLINVAR:1210298 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65d964ec-6272-40ce-a757-69063a2101db CLINVAR:1210299 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 821e4023-454c-4771-a638-70b8c282791b CLINVAR:1210299 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26aab8d1-8865-473d-84dd-205089f0ef6b CLINVAR:133156 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c8c54be-b53e-45d4-9b7a-731134f6a944 CLINVAR:133156 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e383263-ebd9-4449-889c-38b3a25ec800 CLINVAR:978526 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32b4e0d4-c92f-4efb-8a02-2c88a0e77dbc CLINVAR:978526 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f4dde94-72e1-4376-837d-2632e0054c5e CLINVAR:1210300 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8849f269-590c-45fc-a4e4-d448187d06be CLINVAR:1210300 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a4357a8-bbfe-4036-8843-d9d5733f2c01 CLINVAR:983140 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a3678dd-7fd9-4663-9793-459cb8525bbf CLINVAR:983140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dcb9bdc-0cc8-43ff-9eb8-9546150f0955 CLINVAR:133104 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afd85205-eb37-47c1-926a-83e5001e60f1 CLINVAR:133104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa6e284-e23c-4c8c-8aad-cbbc135214d5 CLINVAR:1213684 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen adecfaeb-2d98-4865-8db4-76a6e57ae0a8 CLINVAR:1213684 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 025304ee-5ed1-4ed2-96d0-428e77a78b3c CLINVAR:1210301 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07b928fc-c3ff-445d-8235-b419a2058214 CLINVAR:1210301 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bfb1fec-cd6a-4133-bb4f-5825ae89d175 CLINVAR:1210303 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3f8c3bc-36ed-4655-a475-f6d73628a29f CLINVAR:1210303 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 664ccc3c-8eb0-40fb-b242-15f0e69b889d CLINVAR:1071064 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07b208f9-58db-41c1-b8a0-15db74ccbba6 CLINVAR:1071064 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5bedcca-4ea2-48fe-a84a-c8c9193a2e40 CLINVAR:1210304 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12fdbc46-6ea1-4217-8a88-231e9ced9d1e CLINVAR:1210304 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3af75649-aa7a-431b-b5e8-6023a1fd2075 CLINVAR:1210302 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12637421-0b86-4beb-bb61-337ac61f7140 CLINVAR:1210302 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ae4ee7a-3abc-4b09-9bae-2178cfc2d0e0 CLINVAR:1210305 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36ee64ec-ba82-4e2d-b971-837e3a3cdaf6 CLINVAR:1210305 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de2d18be-6a98-4e95-908b-e86c6380e033 CLINVAR:1210306 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4bef194-2b6e-40d7-85db-7e60462d7014 CLINVAR:1210306 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51b93e87-c35f-4406-8eba-8bbf4fe42553 CLINVAR:1213682 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 508c81c1-bfc6-47cf-a107-05f070253452 CLINVAR:1213682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae31af8a-3710-45cd-8bcd-d9d28dd29d5a CLINVAR:1213683 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8290dc2d-c6de-423f-9906-9d02b7d57cef CLINVAR:1213683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a38bc52f-2c1b-4a4c-998e-fa68395d5720 CLINVAR:1210311 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc6b1d92-b9fe-4b26-8017-f85dbfe8a17b CLINVAR:1210311 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5385c657-1d6c-4eec-bbd7-b4bef4764331 CLINVAR:1210312 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ebd0bf5-3319-453f-ab84-fd79778989c7 CLINVAR:1210312 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b6b764d-ce4a-400c-ab5a-f317e073ff3c CLINVAR:1210313 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d174ca6-02bd-4750-a893-85e7dd98963b CLINVAR:1210313 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae48c3f4-9420-4f17-b1e0-068f6f6cedbf CLINVAR:1210314 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51303d15-c76c-4e5d-a495-9e8d3d1c520f CLINVAR:1210314 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dc3082d-6b6c-432f-a514-cdb9f2d48e54 CLINVAR:1210315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df5b69dc-3f58-43cc-a9a8-2afe5e0ee9a2 CLINVAR:1210315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8264a951-aba6-46fc-b722-1f6103c3d2df CLINVAR:1004840 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1de97534-73ab-436b-abac-292619672da3 CLINVAR:1004840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed388ca-3ff1-496f-a32f-6325a0b0a46f CLINVAR:329032 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f16b38ab-c1a0-4910-a44c-ec35d978d83d CLINVAR:329032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23b4a7ec-0385-4dfc-80c3-aeada52d66cd CLINVAR:329033 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a34ee37-0c21-41c4-bd33-df70a5cdf11c CLINVAR:329033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c508556-747f-47fd-b4d8-6f2ddf25792d CLINVAR:1213825 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb6de3c1-29ec-4598-ad78-50404aa8b256 CLINVAR:1213825 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3a3fffe-6935-4dd8-9e71-f40fa8fab90f CLINVAR:544383 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c805840f-4b1c-4d96-8bc6-a4306ebbe5b9 CLINVAR:544383 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ff5849e-6cca-4efd-8625-8f7719b9778c CLINVAR:1009683 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36c7f430-8412-4269-8634-d59864f88cbd CLINVAR:1009683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac316e1c-bdf9-40c7-afae-93b194d0d3cc CLINVAR:1213827 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90582eaa-d31a-4e7a-92ae-d023c7264355 CLINVAR:1213827 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97e1e7b3-2091-4c9d-bceb-98a32bc0f2b9 CLINVAR:544517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88185ee1-b696-4eaf-a4f3-b444231e0d95 CLINVAR:544517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7403a5f-4b56-40db-bdfb-4eac9f6762ac CLINVAR:1213820 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b33128c-c47b-4457-a23c-cb968f58ecd1 CLINVAR:1213820 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d120ca3f-921b-4dad-9bb6-17fe2024b1b1 CLINVAR:590571 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 688c081f-ee21-4b31-be41-011a55cf8736 CLINVAR:590571 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d0e200-3c4f-4077-af14-c0e1464fd520 CLINVAR:133163 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 255b0d31-1b29-42db-a99b-af8669c9df41 CLINVAR:133163 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d604aaf2-fd6a-4d41-8b34-5647394a47db CLINVAR:568713 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afa4efcf-7d1f-4f8e-9f28-52c0a26b22d0 CLINVAR:568713 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba2e1a8-2a03-4fe6-93bc-87735e4d704a CLINVAR:590574 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85c032aa-8a85-4ab7-9df8-dd0df086bfcd CLINVAR:590574 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eb38443-1c8a-432e-8fe1-62dd85c3cf7a CLINVAR:1213821 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ce412b0-f6ea-402c-ad5e-e03eeff3d332 CLINVAR:1213821 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71f334f0-b00b-4adc-9624-2059b0291fb5 CLINVAR:133178 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27fd8af9-4610-4970-bff3-1f6e53c3f575 CLINVAR:133178 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e940fe03-677f-4996-8bf5-f87bae6cbd7b CLINVAR:133181 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db1843c5-52cc-4969-af59-ee11747af5ee CLINVAR:133181 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18d981f-d52d-4bea-b3aa-d80628f01a61 CLINVAR:133184 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 374ff7ab-371f-4d95-a4e7-1539bd0b856d CLINVAR:133184 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 870d7f57-fa53-4405-a14d-e3d3d0385e33 CLINVAR:544455 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4467219-404c-4230-802a-13dbd642499c CLINVAR:544455 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5944de1-27c2-445c-ad2d-05dec35e369c CLINVAR:133077 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen daa32408-c0c4-4f90-9115-4b7bf011b091 CLINVAR:133077 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd1ca487-5624-437f-83e4-ade3c56f8f4d CLINVAR:133082 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 688158b7-ea5a-4afe-a288-81e09ec88d6d CLINVAR:133082 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa02b898-afc6-4215-a964-ea24219955d1 CLINVAR:65988 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b890e04-1ae9-4bec-b76d-ce500678becb CLINVAR:65988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fa21d5c-2a67-421e-8b55-0064f6ce9214 CLINVAR:133087 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7414e247-05d7-4302-a172-2a7e03d03dc0 CLINVAR:133087 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74dda7ed-195b-4101-be40-6b96dd36947f CLINVAR:65955 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a87177d7-3711-4b5d-9fd8-7a8643a78564 CLINVAR:65955 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2510df3-8ff1-4b95-869b-f01b049a6deb CLINVAR:1213822 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24c9ed09-277a-4ad5-b3ac-1f369d26913e CLINVAR:1213822 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fa3551c-ae95-4f71-ba92-095f4b937d82 CLINVAR:1213823 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eba34cdb-652b-42a4-81c0-d57d5c940da8 CLINVAR:1213823 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8999a64-b00f-4ace-bff4-374c256fb218 CLINVAR:133075 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ba52a7d-8237-45f5-9878-35579f969ba1 CLINVAR:133075 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8164d301-9a97-4088-915a-a9b18df7fa83 CLINVAR:1213824 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c515a928-f311-4161-813e-cc2c428e5297 CLINVAR:1213824 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e68e1ac3-78f3-412a-a150-540fe0edd82f CLINVAR:590472 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c214242-8921-444d-a27b-208591c1e04c CLINVAR:590472 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56130723-3b6e-4187-a577-17f5dfd74462 CLINVAR:102675 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 812192ff-2822-4a0c-a06e-91729ad852a9 CLINVAR:102675 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 116e6fc2-21d2-4c5e-88d1-4993c775e360 CLINVAR:102768 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f340cf6-e488-4336-a8e0-94d818a54c29 CLINVAR:102768 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f5fd336-fe94-43da-b67e-edb655cd6eca CLINVAR:1327560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3945bff-2721-47e9-add8-cc1192a539c9 CLINVAR:1327560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6103fc77-a972-49ec-a202-bad87b0f11a1 CAID:CA16021003 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ad6148bb-295e-428c-bb1b-b113bc41818a CAID:CA16021003 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ad4eb8a-8b51-4a81-9e1d-9dae2f92610c CAID:CA16020936 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e746af2-c784-4d64-b3bf-2aa96c0b3b1d CAID:CA16020936 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad298b6-506e-4cb9-af3c-b083ae6420dc CAID:CA16020941 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1e9767d-5881-4e55-b1c7-c8cc7d9ac5d7 CAID:CA16020941 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c217e7c1-77a4-45a0-9bec-ec0b60de507b CLINVAR:102860 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55853b74-948c-405a-a463-90262acd0ee1 CLINVAR:102860 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 028fda03-e690-4cff-a026-193fd09fe190 CLINVAR:551270 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4fb73a9-697e-4c50-bc71-092117dd1de7 CLINVAR:551270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8102901a-15d6-4552-835a-d776e8a8cc2b CLINVAR:1327501 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed628479-47c4-44eb-b55a-496b4270cb5d CLINVAR:1327501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b328ff0-94cb-4c55-b5b8-b5dc061bd857 CAID:CA891862619 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6af20b3-e126-45c8-8fc8-a7eda8c778bb CAID:CA891862619 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d161b4c-104d-48ea-b0e8-868e7075abb2 CAID:CA658795288 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80cd98f7-fa69-4e64-8a22-e8a737734ff4 CAID:CA658795288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd48d702-a99f-4c86-8853-b23cecb6f5d1 CLINVAR:1693552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 302a8032-6492-4284-a0f2-0c924257a74b CLINVAR:1693552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfef1e66-abce-4eca-89fe-45490f598be6 CLINVAR:188806 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 223e26f3-8b35-4f94-b1fb-c48ca7424b7f CLINVAR:188806 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b2b17f5-3f7f-49e0-a036-4bb1b55a88f3 CLINVAR:194154 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab20a635-ec76-46ff-95b1-b6077131fc59 CLINVAR:194154 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a40e35b9-2ec2-42f3-af37-decb44bc6b88 CLINVAR:4029 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ead6557d-6d5a-4468-bf19-dffcaef6aadd CLINVAR:4029 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1f6c970-1656-470b-9031-1ea8c88876d2 CAID:CA251545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15569b13-4243-40e1-be1a-ebc010aac479 CAID:CA251545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44da03a7-4248-4c5b-9fe0-f04e04e757b4 CLINVAR:558612 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c66c1087-a964-4761-b100-a4ae0da54325 CLINVAR:558612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a2f601c-f4f9-4a98-82d0-4862f509b56a CAID:CA16020968 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b3ec254-25dc-421b-bdbf-dbcab80f102e CAID:CA16020968 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 964839ba-0f45-4a9f-b906-3c0e1d43ac93 CAID:CA16020934 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31d8700e-c5c1-4830-b757-e5dcca7a193c CAID:CA16020934 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25f6f7e2-f657-4003-879a-f6042ba7050b CLINVAR:552488 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1237bf47-059c-46ff-8aec-25b232061a09 CLINVAR:552488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9e87a16-46c6-4fcc-85bf-e7d2b8c7aeb7 CLINVAR:660581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bec932e-792b-48da-b2f5-8afaf32fe604 CLINVAR:660581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09c2d449-5984-4c16-9344-2f3c8e8c17a1 CLINVAR:102538 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8712f09-7671-43e1-9b4e-2fb983033f4b CLINVAR:102538 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e53a0544-df73-4644-bd67-a8dcdc5a75f9 CLINVAR:102771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d032cf4f-46f0-4f9a-9573-766f3b0043cc CLINVAR:102771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76180bba-25d1-4a03-99cc-f4e96dbc1574 CLINVAR:102773 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b944cf4-9e7b-4fc6-a49b-60a60f108bf9 CLINVAR:102773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06590428-a08f-4010-8a62-a6805c3c9ff7 CLINVAR:102775 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8bae3b41-3b9a-4e1f-9d78-4bf46de84b29 CLINVAR:102775 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00638428-487a-4eea-b65b-b16ad19d912a CLINVAR:234613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87762339-60f1-4ec1-9637-33d148a8838f CLINVAR:234613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c4de4c4-7aae-4a33-bf02-ac3e276827bf CLINVAR:1292057 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfe4dbf3-ae59-4630-82e6-0b136cc1cda3 CLINVAR:1292057 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a8c995f-1306-46da-b2a5-8fbb0d09e204 CLINVAR:102861 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16a01db5-48b0-4163-9466-c29be35f44bf CLINVAR:102861 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96871d37-db26-4cd2-8654-7684f9af7258 CLINVAR:237950 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 939dabc1-a98a-43eb-987d-cd74fa6a3626 CLINVAR:237950 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb6b7200-36d6-4b81-9101-5e1c957ff658 CLINVAR:406604 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 135f95b3-aec3-415d-99e9-88fbf0fcb477 CLINVAR:406604 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8467ddb-fa40-4885-a506-5ed805884046 CAID:CA16020837 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40778f35-8511-4706-a1d4-07cb67793b7f CAID:CA16020837 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bdb50af-a684-4813-8d9d-1538186fd386 CLINVAR:557425 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cbe57f8f-4767-4bb3-9940-28c48563163b CLINVAR:557425 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c13729-6d8f-437c-91c0-50274b68f263 CAID:CA16020844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 677c94f4-9025-4b60-bf40-d2be23a9b640 CAID:CA16020844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c30a0050-4bc6-401d-85ad-10fad6549cc9 CAID:CA16020848 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ddaa119-4ac4-40bc-b207-acdbe8b0b1bc CAID:CA16020848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c57132-b06d-4d5d-8b09-b97bb6ad25ad CAID:CA16020914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64d8b0b5-f456-4b68-aae4-d9ffa69d79d3 CAID:CA16020914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 821e9219-4d52-4c96-88a5-99726e6b82c2 CAID:CA16020927 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d0f3822-9e7d-4298-8b1d-b9dedce6905b CAID:CA16020927 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e5c36a2-c523-45fc-a5a7-5aad90b51d6b CAID:CA16020942 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4113a81-c273-4c07-bb36-f3468d9c1fc8 CAID:CA16020942 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b294c8e-c587-4394-87e7-c6ccf5598ade CAID:CA16020952 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e66d23c-5ab0-446d-9bd6-a19af26a68e5 CAID:CA16020952 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 438da192-6d6a-4c7f-9c05-d7475d83d105 CLINVAR:862570 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 951c77e6-f8af-4a39-a90f-52d25a01ae00 CLINVAR:862570 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f373d5bb-132c-4c18-a4d8-4a710996ea36 CLINVAR:551592 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d097a5b3-4a89-4457-bfd0-dbbccfd6d2f3 CLINVAR:551592 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c27019b-b641-427c-9bb7-6cc2d2250a42 CLINVAR:189059 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 577c41e4-e609-447b-a89e-d179252b1f51 CLINVAR:189059 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49216d34-46c2-4d51-a890-141309c1bd10 CLINVAR:556716 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57b64a1f-6d3b-4eae-86e0-c504ed151b42 CLINVAR:556716 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 366cbd58-1030-4ebc-8b4e-6c5866b8da14 CLINVAR:552747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b154713-e080-42b3-80d6-2bd2eacf825d CLINVAR:552747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92a81c10-74f1-40c3-8b8c-3f821a5b702a CLINVAR:554096 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 769827c0-b162-47f5-bc7d-e329e4f30c66 CLINVAR:554096 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc167daa-e1dd-4ddc-8082-6ad6c4e12dc8 CLINVAR:550277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 980638d1-fa61-4145-b3c6-d95ab04cb0cc CLINVAR:550277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fc638a3-b4ee-492c-a71a-faa3cf29e3a0 CLINVAR:370552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfe63ee2-6524-441c-9db1-265f02162ab2 CLINVAR:370552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d95fe0bb-0e98-4b5b-bc5f-d57a6bd0a064 CLINVAR:370639 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24d53eb6-786f-4c81-a6bf-7acd7427cc71 CLINVAR:370639 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9194f086-9be4-42ca-843c-85f7fe093cdc CLINVAR:370993 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 00a2afb5-8b60-4c11-a87c-9c204008d5c4 CLINVAR:370993 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e864f73-fc22-4e62-b880-7f98be54330e CLINVAR:555341 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30417253-b7f5-4c71-93ec-0a088a93379d CLINVAR:555341 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54187648-30c6-452b-aab7-b6241900f3b7 CLINVAR:558571 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50f61fcb-5b10-4b5e-b8b5-0fbae092c1d1 CLINVAR:558571 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f04eeca9-e495-474b-899f-a4e4547e72b6 CLINVAR:92480 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37eae522-a2f8-4b0f-b9c2-bfcc050da052 CLINVAR:92480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 381683f6-bd1c-4eca-8f4d-a9e1508d4050 CLINVAR:550478 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8da7f748-6d40-42dc-abef-da3181125a1f CLINVAR:550478 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b418a8cd-0e8f-445f-8b0f-ef42dee05da4 CLINVAR:597005 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27bc9c4f-88b3-4e88-a446-e09ccdb4bfea CLINVAR:597005 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09e94594-7e52-4856-abf4-c3d67576ce3b CLINVAR:42835 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25f81d0b-b9c7-4fb3-86ff-de3bee3b08b6 CLINVAR:42835 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18c0ab07-e158-4ce9-91d5-c6a0417fe2d4 CLINVAR:42840 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 215bb0be-c92c-43e7-b95f-678cf3ff6a7f CLINVAR:42840 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6aeae7c-f271-46af-b6e7-2e3a352b0a18 CLINVAR:42860 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d51a0a65-cb31-4e43-b43f-77fe6776b2a2 CLINVAR:42860 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 053494a8-f894-4abb-b538-9e2af52987de CLINVAR:42876 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83a24c08-257a-445e-8550-d0f008b4915e CLINVAR:42876 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcbc2ca0-3741-4482-8da9-acb55f331f52 CLINVAR:42948 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9754a99-a3c3-46c1-8b26-e3d9f1d94b88 CLINVAR:42948 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15da3b6c-aa43-4126-8f65-8616d560aab9 CLINVAR:42960 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0e91990-4471-4051-94e3-41744dfaf5d5 CLINVAR:42960 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c97450-eddf-49a2-8ed3-f3522f072ea0 CLINVAR:43028 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae179d8f-bb76-4912-8a56-2aab55fd2c78 CLINVAR:43028 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4038a9e-8051-49a3-be4a-80db44cd8b07 CLINVAR:43064 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bec728b0-7f29-4e8b-8942-1f5a10192b47 CLINVAR:43064 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a348416b-878e-4ad5-9eb9-caf9c7e719f9 CLINVAR:161323 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 810c9a42-9242-422e-bec9-bb78aff91864 CLINVAR:161323 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85db12e0-fd87-49fa-b566-a76534e16d7b CLINVAR:164316 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93bb0ad0-0e8d-4513-bc13-f0152e3f5dc6 CLINVAR:164316 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aba1efd-639c-4caa-a306-7987fa94050c CLINVAR:42926 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c430ce8-0b3a-4163-aac1-086a62d5763f CLINVAR:42926 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d617a2db-a929-4f19-aff7-e695523d1840 CLINVAR:164319 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a1f67a6-de61-4899-8f05-be693f5385d6 CLINVAR:164319 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f69ca2-3ff4-4a31-8193-3958cc7759de CLINVAR:181203 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f171d5f2-4847-4ce7-ad08-5bca692b9962 CLINVAR:181203 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cd061f2-9f7b-4df5-87d5-6df2e599d4a8 CLINVAR:164381 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf8f0fd4-c391-45eb-a4fd-224602cd4055 CLINVAR:164381 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a84e2bf9-30d2-46e2-a54d-4fed87c5f0e4 CLINVAR:177667 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b5ec226-9e13-4c31-8d55-b70af4d2e348 CLINVAR:177667 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0374e58d-b8ad-4566-b85e-f7d762be6020 CLINVAR:177734 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db107fd4-f503-48cf-8bb0-fa16a9b42fd2 CLINVAR:177734 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a35b8432-d09b-47ec-a729-d75d57546818 CLINVAR:177847 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb2b0f13-6c15-4f04-b9ed-12b1a0b1a4bb CLINVAR:177847 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c363ea3-840d-4208-beed-e7281ba57e4c CLINVAR:179272 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 061a31fa-1c80-4340-a39e-962a67de8210 CLINVAR:179272 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5708d1c1-ad2e-4148-a242-e5148c595684 CLINVAR:180439 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d318a98f-4212-425a-9cf1-2c6ce6d52319 CLINVAR:180439 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0276cd9-5f96-412f-aa46-9d120755062e CLINVAR:180441 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a85c253-3fee-4c29-8ea8-e24d0a2e3d43 CLINVAR:180441 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91012fe2-a74d-494a-babc-ebb0d2c1a974 CLINVAR:43097 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09939d3c-99f9-4824-a073-966f9ceb1699 CLINVAR:43097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e1c05a3-ab0e-4392-a57a-dc545650a416 CLINVAR:180434 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78b5d142-5368-4edf-a416-e9e9e33ca401 CLINVAR:180434 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4fa68a8-e4cb-44af-a5a6-eb61c0ea3a8b CAID:CA16020978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4af25171-3ec0-4310-9a12-bbfbcc76946e CAID:CA16020978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 799be1a9-676b-4bd1-b2af-b20367178321 CLINVAR:549912 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9d48606-3635-493a-a4f8-00cde9a8a510 CLINVAR:549912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1463de7e-f97a-4099-8abf-cd6e69232af3 CLINVAR:127811 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e959bc6-1d41-4e50-a4f2-abc82d54122a CLINVAR:127811 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ef3b465-16e6-470d-ad35-e9be9a8df855 CLINVAR:973858 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94be4291-3f03-4401-9741-e1fc2ff8dcb8 CLINVAR:973858 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88d5508f-897c-4550-ba0c-474e56f10924 CLINVAR:102681 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cba512d-dcd1-42d2-9cce-f5f9723dc514 CLINVAR:102681 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b8241fd-0eb7-4ae9-be6a-1bc29470b937 CLINVAR:9641 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4094846-fae2-4961-9542-30592bb83d0c CLINVAR:9641 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93bb7f55-7d7b-4f7c-bc70-efab567c9809 CLINVAR:1065382 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19525ce8-6855-42b7-ad2b-fc212f7a29c3 CLINVAR:1065382 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed63c5ac-bdd8-4a4c-bdd5-a6a30e99c943 CLINVAR:9642 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1dbd35e-d92e-4a34-8efd-d46e035dbd86 CLINVAR:9642 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1767621e-da49-4159-b206-4dc36d86c977 CAID:CA916084430 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7671bed6-0d96-4b21-9310-9f67dc673ff0 CAID:CA916084430 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9259e293-c7cf-4ae4-9162-1fe72aecaae9 CAID:CA916084429 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7b38649-ff6b-4826-96a7-f8988f411bf8 CAID:CA916084429 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0a0c0b8-e09d-498f-aa6b-10653a6570c0 CLINVAR:890601 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48a47eb5-8f56-441a-aed1-467aa31ce2d4 CLINVAR:890601 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen badafdc9-7e3e-432a-88f7-eb5517832d44 CLINVAR:265901 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32f44cd0-65f7-4080-b6fb-d466bd4e2538 CLINVAR:265901 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9501a0ae-1c30-436f-b541-575c9be9a1ed CLINVAR:650703 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 229ffd5e-873c-404d-bbc6-2a386b9702ad CLINVAR:650703 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05ca089e-f7eb-40ae-8735-c64d81117404 CLINVAR:977125 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ec746f5-6443-41be-8d87-b4ebcac04978 CLINVAR:977125 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d087933d-7380-46d3-85af-ecc84568a6af CLINVAR:953025 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b960dfbb-4ca5-4258-9f71-88f44922895e CLINVAR:953025 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a4c2fc-8651-4a71-9895-093183b1213b CLINVAR:2323 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 703e53bc-816d-44a6-8a0f-d661dc5e4d31 CLINVAR:2323 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4d4a4c9-9210-46d1-810f-7c9615d991ce CLINVAR:39816 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e57b2e07-3200-4ba4-8bc7-fc828942049b CLINVAR:39816 biolink:is_sequence_variant_of HGNC:393 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20402865-0a57-4c60-a5fa-861b4b88af59 CLINVAR:664963 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63b64d0e-ca30-4af2-a9f2-d6c3163b324c CLINVAR:664963 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8de469c-8072-41a7-8589-e04d05af9eff CLINVAR:995382 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ca94792-b7f5-47d4-b517-d9c4658f2b48 CLINVAR:995382 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57bda402-7044-455f-8315-2a088ce83615 CLINVAR:39808 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7aac7b49-59c5-4449-b90c-68cecd88ea90 CLINVAR:39808 biolink:is_sequence_variant_of HGNC:8980 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b56c782-7f31-409e-9038-2779241cd8c5 CLINVAR:376130 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e9bee50-fb44-4e67-94e3-289244b989d6 CLINVAR:376130 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d9b8e08-2ed1-45ac-a1da-bd7d1fc2b83e CLINVAR:858694 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d706700f-e4a4-40d3-bd19-967bc266b654 CLINVAR:858694 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b50482ba-5376-4c02-bd33-6bfd9f1bcfc3 CLINVAR:376453 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5920329-7c39-4f7b-ae41-3c1de370bcca CLINVAR:376453 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d082ab-e06c-49cb-913f-192b66eb8ca4 CLINVAR:1296990 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3587803e-250b-4fef-85f4-f4d551997db6 CLINVAR:1296990 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba6386f4-7109-4153-8191-73348303e0be CLINVAR:833713 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ce4c9d5-9225-4c1d-a00c-90f9f848f3d7 CLINVAR:833713 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d00146ac-5db9-4683-9f05-c0477863f99d CLINVAR:374796 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 142608b3-1fe9-4e07-9d5c-81d8e919ba07 CLINVAR:374796 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec7ac3b6-611b-4220-ba7a-d00ab8ce57b5 CLINVAR:1296992 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 675d8f77-a84d-4dd6-b3ac-6ceee99992e2 CLINVAR:1296992 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c04341a4-971a-4508-8a5f-820f25f29241 CLINVAR:31944 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 358ae2e7-09a3-48fa-b699-0396984696f2 CLINVAR:31944 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a19d93c-4ebe-4b4c-af2e-2c72d1ec97eb CLINVAR:39703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 659d66bc-daba-4486-ab08-8de70da55137 CLINVAR:39703 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31faf5fa-1774-413e-b054-a839402a16f4 CLINVAR:1296991 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c41010ea-0e8e-4f85-9cd8-1ce173216901 CLINVAR:1296991 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a946631a-edea-47a8-bb99-5a6120b3d555 CLINVAR:376476 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c91a67ab-403a-4f35-9e41-bd6c44b11df1 CLINVAR:376476 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 181450f5-ece8-4a7f-bf0f-caabdaa24b4a CLINVAR:156702 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 524846f6-0147-4efd-912e-e1e79079ddb1 CLINVAR:156702 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bd2790a-bc67-4f66-bcfd-c27af98ad962 CLINVAR:376129 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 563a2779-df42-4789-8c04-7d5471617f55 CLINVAR:376129 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00206975-cf73-4b78-b9c9-d787a9d694c1 CLINVAR:1296997 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1067c1e4-55c4-41cb-8a64-b5266859a599 CLINVAR:1296997 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 642b7be1-09f3-4202-a6c3-848a5f5cecb5 CLINVAR:1296994 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bdc2c4a-ee9b-4700-92c1-8df719c9d3b3 CLINVAR:1296994 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 757328fa-8206-4951-88d4-44f3faea65ee CLINVAR:1296989 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e113709f-6c84-4ed8-9f86-2037e343ae45 CLINVAR:1296989 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d61ed697-126f-47f7-89b7-572e0d19607e CLINVAR:659938 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22955c7b-fa24-4ef9-995b-16e64da47077 CLINVAR:659938 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb1a8f18-9437-4785-b3ba-557e22300648 CLINVAR:1296993 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3982f772-b747-408c-838e-d9c8e7367b51 CLINVAR:1296993 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25decd26-0106-4744-8888-a1a227e8fdc2 CLINVAR:1296995 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8be6bc9-ade0-4aa8-9020-9d04e03eccbb CLINVAR:1296995 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 378dc3ba-2fb8-4d0a-9ae9-fe997c19184b CLINVAR:156703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 442b6602-b81b-4d11-a469-685a0f39c484 CLINVAR:156703 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b065683-94c9-4845-916f-be885905ab50 CLINVAR:1296996 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 963d6092-ea94-4234-b7d1-5a1a33aec68c CLINVAR:1296996 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b9b3685-b0aa-4a67-915f-85d6ad0c5821 CLINVAR:417723 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e4378a0-dc6c-41d9-9264-634f89e0dea8 CLINVAR:417723 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c96e2ebe-1988-43d7-a836-3d54748ec5ff CLINVAR:13652 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b494ef29-1a81-423f-b82f-ccd0551f96e1 CLINVAR:13652 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80995c98-e036-47f4-8676-fed720eb4a56 CLINVAR:693058 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 863814a9-4768-41a8-bec2-77a216af2e76 CLINVAR:693058 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b72f33db-a5a3-4aa3-9a0e-ece9e6d58d99 CLINVAR:1172526 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44cb278c-0d77-43ad-a6ef-1915bf28abe7 CLINVAR:1172526 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 368bd5c0-5d1a-4143-9735-7ef88b3c0fdc CLINVAR:658833 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f9fc1de-92cc-4c11-85a8-b32eed1e0e53 CLINVAR:658833 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 280bc374-a905-444d-a71a-d6dc50535a23 CLINVAR:329444 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 431d50b8-89ee-4c63-b1f9-36a3a84bc49c CLINVAR:329444 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 925981e2-51c2-4bdd-b55c-9ae20c6da0e3 CLINVAR:329442 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f6ae034-3957-4030-948f-76b74af39857 CLINVAR:329442 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de0d49fe-d197-4c35-aa20-7be421f99e55 CLINVAR:214936 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 447ca15d-08df-4b4a-9723-33dfd7e2b016 CLINVAR:214936 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b29354ff-2e28-43ab-b32e-efca71852e05 CLINVAR:214938 biolink:associated_with_increased_likelihood_of MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31561218-251d-4ac8-9e51-188edf67fd68 CLINVAR:214938 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa13d4c8-113b-4ab3-a35e-332d03835d46 CLINVAR:972803 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc98c31d-8d5f-408a-b2cb-0a7cbe26cad6 CLINVAR:972803 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d58a9fe-afdb-4b3b-867b-7c6a50054bfa CLINVAR:1327503 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29438d75-6a37-4015-b696-bb13ab7dc04a CLINVAR:1327503 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d1d8e90-d2c0-43fd-b2e8-5c0ec9618462 CLINVAR:1327504 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d9b89ed-06ae-45dc-8d07-e0e2f7389c5e CLINVAR:1327504 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4be164e-293a-4b6f-baf0-449ee6aef836 CLINVAR:371481 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88f1eebe-bd31-42c1-959b-e0b4fb54e067 CLINVAR:371481 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c49abf31-e426-44d0-98c4-d166038ce42c CLINVAR:551558 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 979d4816-9f52-4d7b-a95c-60108499b0e2 CLINVAR:551558 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f354a8f-57d8-42bb-8259-6f5cca07fea2 CLINVAR:9714 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a27ff5e-7772-4f84-8454-e03f4a371572 CLINVAR:9714 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8416bf5-7279-4c21-831f-0e24f4c0c37d CLINVAR:555153 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b74e20ef-db1a-4e85-a74e-f0f0ae87eb7e CLINVAR:555153 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 123c4810-3fc5-452f-85d7-a2f1f2f75e78 CLINVAR:558700 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8280593c-c4f1-43d8-9c70-55ef8e40ef43 CLINVAR:558700 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 549eee30-706a-427b-8763-935751f4585d CLINVAR:956209 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ec399d5-00b6-4fa3-8520-56788e1656db CLINVAR:956209 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28dde04e-1c6e-4057-9119-cdfa4b5e251f CLINVAR:9702 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90d10fb7-c610-4d7e-be40-2673d115bc8b CLINVAR:9702 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c389a2a-bf94-48f0-be2f-685736fc8f65 CLINVAR:689930 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e8dc6ae-0fa8-4c92-8aff-4bc95d7bd99f CLINVAR:689930 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b2e823d-6409-407b-8dc3-e1a663071453 CLINVAR:265160 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 404611cb-a61b-43a2-b9c3-22e86b177414 CLINVAR:265160 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f7868f4-9b87-4714-b154-1a5a106eb8e5 CLINVAR:1327591 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c988280c-d226-4be3-b138-65663bf70fb1 CLINVAR:1327591 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51abaa32-612e-4573-a9cb-04b3bb6c1a28 CLINVAR:1327600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48db9990-edcf-49f3-bab7-3c401421c7c5 CLINVAR:1327600 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b64ce203-f55e-4425-b1eb-eb1f3d475d5e CAID:CA386959939 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1087eb4-d7bb-4b2c-8a59-4f6ab2e46fca CAID:CA386959939 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a4c99de-4d68-4e49-915b-95157a5e3a25 CLINVAR:1327616 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b93e5324-343a-48be-8f10-61ac9ef87b30 CLINVAR:1327616 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e43c7fd-90c0-4a4e-831e-2147f0c0c831 CAID:CA386959900 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb1effc2-e9a0-4608-a207-b4f7800c32d4 CAID:CA386959900 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94891f3b-4888-49b2-a3da-d7adbd6e4534 CLINVAR:586798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 864221b6-e71a-4638-ad67-dfc80d6086f4 CLINVAR:586798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36c9adca-6afa-48f1-9ed2-3bea4dd72b5a CAID:CA386967824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 692d8c3f-5609-41db-ba74-26a31fadf0de CAID:CA386967824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd614bab-1743-480b-8027-e36a6f39a701 CLINVAR:617646 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aaf39fd1-aa63-4aa1-8d4f-6cb90ea530c4 CLINVAR:617646 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4af5ebe-8a52-41fe-b8c0-75fc5967948a CLINVAR:1327622 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af55ef16-6ea6-4e6c-a1b4-ba2b0f47a399 CLINVAR:1327622 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c069a67-7933-45e2-bed7-2ec9b698dfca CLINVAR:1327592 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ecd63c8-ad8a-4606-8b9f-e161151a19cc CLINVAR:1327592 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38c2159f-2c33-4c42-83bf-42ea2689b768 CLINVAR:1327593 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fffc5c13-b38d-427f-901c-57037d4d79d2 CLINVAR:1327593 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 003602f2-ab87-48a9-bb21-14f7672cf1a5 CLINVAR:14930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 252cb293-42e2-48d6-a5a5-07ba25088848 CLINVAR:14930 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 355582eb-6aed-43d8-95f4-d5a78e36eb1a CLINVAR:1327594 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a1608cc-8862-4b60-bd28-1428af2a00b8 CLINVAR:1327594 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4059ffa-4c66-4957-8b59-038daa29173c CLINVAR:1327595 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b0ccf0d-14b8-472d-9e55-577bc54720eb CLINVAR:1327595 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 451f70eb-1ff8-4708-96c0-b9a3ab8ad207 CAID:CA386965858 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6feba1e4-69d1-47c7-a5a5-96d034f34505 CAID:CA386965858 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ecea3f0-6279-44e8-8dfc-a678c355437a CLINVAR:1327597 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 925ba9fe-d213-4131-8897-372974fd3417 CLINVAR:1327597 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df6c4394-2cca-4560-b2a1-aa933800a6a0 CLINVAR:1327598 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b907249-b437-4f6b-b41c-77beec5e6bbc CLINVAR:1327598 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 900c4d43-0034-4ac2-b116-77aeb017a872 CLINVAR:1327599 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fa9ce09-a6ae-4aae-bd36-6513024e1e24 CLINVAR:1327599 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9095e7c4-e7ea-4d7e-9a18-53e57e691af5 CLINVAR:1033090 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b204da0-b0bc-4192-ac14-b86023395cb7 CLINVAR:1033090 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec1b40a-4e77-43b7-8ec9-8ad34ba583a5 CAID:CA244520175 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7deb16d6-1f74-4684-a661-bada18436808 CAID:CA244520175 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b92a9c32-422b-4497-8ab4-63813b442956 CLINVAR:1327602 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19fd5af7-b3a8-4485-94a9-c410c859e605 CLINVAR:1327602 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e3923b9-7e3c-458e-9664-583f079570b8 CLINVAR:447488 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7de65a1-383d-4aa0-bc59-dfa282cd9733 CLINVAR:447488 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e9e7233-7e46-47b8-90cb-30243195472f CLINVAR:14943 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1eae9bc3-d6f0-46f2-9f57-023546b4876f CLINVAR:14943 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f07607b0-48a5-45cb-8675-aaa22b73aee0 CLINVAR:14933 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1f33877-7caf-4168-930d-ef22a393df68 CLINVAR:14933 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de9c239-9d5d-496d-8ba0-de662b767350 CLINVAR:562373 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b278cfa-554b-4b44-b098-8d07dabc2950 CLINVAR:562373 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75d65fd9-62fd-4ec3-ad3d-585c5ba13f1c CLINVAR:1327603 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7517327f-bfaa-4082-8967-3da4428a8768 CLINVAR:1327603 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b3e7f7-929f-403e-9971-b3dca17dec65 CLINVAR:994547 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72ce2596-e0b9-431b-bd70-9dae67454b27 CLINVAR:994547 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3ecb716-9fbd-4be6-b037-f5ff488d0c68 CLINVAR:484614 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb043809-2ad1-45ed-ac8c-63b544fd3904 CLINVAR:484614 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db4dc0c-2983-4191-9e95-6292d673e6e0 CLINVAR:9689 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1cc8cca-e98b-4e30-9159-221baf571616 CLINVAR:9689 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e3621e9-a274-49e8-af59-adca5203a91d CLINVAR:9579 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8bde7d6-2aa9-41a3-8ec7-e2d052069162 CLINVAR:9579 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db372002-e326-4db9-8441-f692f1fcc0d8 CLINVAR:590492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8b001e7-0b52-4128-a477-9be1812a1caf CLINVAR:590492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cb06761-1091-42f5-a395-9b38ca3e07ab CLINVAR:133093 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4ce8583-ea67-4f0b-af06-85117f409c21 CLINVAR:133093 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10c6f0d2-15e8-4e23-bf9b-ee97355d646e CAID:CA16020828 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3997b31d-a311-4106-af3f-a3bfabf14d41 CAID:CA16020828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3d3a005-bbda-4457-aeec-4dde332744e7 CLINVAR:1327604 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68c77d60-4987-4e35-8de9-28b2d475660c CLINVAR:1327604 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64e90193-9f6a-4fa5-a9e9-5879a6705e2f CLINVAR:1327605 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a93bc23c-1614-4f6c-9604-e0264f036aa4 CLINVAR:1327605 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c266e7a8-7b1b-4653-9f83-4f95ef27259c CAID:CA2023554331 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 109b3212-8ff6-42d6-9c0a-3bb6a8aab7b1 CAID:CA2023554331 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c79acad-c7e1-4597-a08d-3e6fc8fea79b CLINVAR:1327608 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70d0f806-b5d5-4b6a-a907-f63d51d2ae38 CLINVAR:1327608 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccf2bde9-1e65-417a-a3a8-3ebe43f6c296 CLINVAR:1327609 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a57b20e-d718-49b7-82e3-5f50dc617a30 CLINVAR:1327609 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09e6d09d-6a0f-4995-bbc6-cbade5dffb3e CLINVAR:1327610 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba59db1c-8d6f-41d0-b500-36ca648fe449 CLINVAR:1327610 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1398e20a-53a1-4285-9afb-0587a625b4b8 CLINVAR:703089 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81ec39c1-158e-460e-8603-98f8bc7fca85 CLINVAR:703089 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2b85613-2f41-4731-9510-036b5ba7e143 CLINVAR:102539 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3497d66-8f0f-4b2d-b3ff-d661a32a7516 CLINVAR:102539 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aff867c-b3f1-4539-aa8a-9d629ee2f845 CAID:CA16020982 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f693f49d-9506-4956-821a-3f026b0b2c91 CAID:CA16020982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57cb05ec-e931-49de-9917-87a09a260356 CAID:CA16020983 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79595302-807e-4e85-8e52-266b7128647c CAID:CA16020983 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1da7198-0c4f-4d5f-8979-73aff6a9d1d7 CAID:CA16020990 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce1c30c4-5d24-4a78-b000-e45a2e22ba36 CAID:CA16020990 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf86f71a-5479-4541-a004-75f5617a7637 CLINVAR:962987 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d325440f-31d0-495b-b1ca-972cdd82e87e CLINVAR:962987 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5d1c573-483d-4a78-aa48-33d78e2c1fb3 CAID:CA6748773 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 590222b3-302a-4164-9104-5be76951d9e1 CAID:CA6748773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa132a1-547f-46dd-818e-4f31674b667a CLINVAR:102528 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57b35c41-de2b-4059-bbb0-adf3825f50e9 CLINVAR:102528 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8223ef62-7fc3-46d9-a528-172916a7cd0f CLINVAR:102545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d4f1f99-3ed9-467c-8ec6-ca2f50b565ae CLINVAR:102545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31db4dcc-9d42-48e6-aa2e-19a11dabde2e CLINVAR:102546 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03ab8546-b0cf-46bd-9d69-540815641282 CLINVAR:102546 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c104df64-8ebe-4df9-af3d-79680f8dfabd CLINVAR:281052 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5497d70-5769-42ae-8f34-f6dec953fa4a CLINVAR:281052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e95ead52-da19-413d-85df-3c2c5f3b55bc CLINVAR:283219 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d45255b9-62b0-47e2-bbf6-b43aaa2e1cc8 CLINVAR:283219 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cc24fd2-b0cc-4c40-b418-030eeafdf8f7 CLINVAR:640911 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b656632-b7d4-451d-8d09-6f578c4b6a21 CLINVAR:640911 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba8db1dc-fd93-48b4-b550-dac3f14b35fe CAID:CA401363854 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bdc604a-f2f4-4466-831a-b5d7cad7eaad CAID:CA401363854 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aa4bb1e-be32-46a2-b772-1f7d566829dc CLINVAR:370637 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 004529ed-bc3c-42bd-9415-257987fefb71 CLINVAR:370637 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45ecc79f-c79d-4267-a716-2530cf2de44c CLINVAR:181210 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 839487b2-4eaf-433d-8706-7eaaf08bd2ea CLINVAR:181210 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01616a83-6052-4baf-9c4f-1e8f96fb93f6 CLINVAR:181236 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc394cc2-8b5d-4912-aa99-e1339dc2727c CLINVAR:181236 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d01db03e-d76d-4e24-b87a-0cbb27133e97 CLINVAR:181278 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83d61ed0-d8f4-4c5c-bb69-dd3def58f804 CLINVAR:181278 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fda4dac-61f0-41df-b39f-1c590cc2b184 CLINVAR:181286 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 126bd77e-25c1-4f90-9fef-fcad357f23d3 CLINVAR:181286 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de633b1-6fdf-470f-b5eb-ca39d4d788b5 CLINVAR:181293 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12f065d9-fd59-4464-aa7f-dacf5ae45286 CLINVAR:181293 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fc1e694-1881-441b-9377-26f80766d346 CLINVAR:181299 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a0120fa-65ad-4c86-8c47-c95f56a778c0 CLINVAR:181299 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 969a8aa5-1973-4533-9f83-c0a2bc0dc5bc CLINVAR:181300 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e979447-9a27-4b23-8cff-25dac95240c2 CLINVAR:181300 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40a57ecb-6246-418e-abd3-067df7458823 CLINVAR:181310 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cab89db1-7cff-47ff-9dd3-628f561e40b7 CLINVAR:181310 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f83583f-b7ac-4383-9b01-dac460a0291b CLINVAR:181312 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abdb85dd-5d46-4ffb-8a4c-91cf48fb90a7 CLINVAR:181312 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 034cd7b8-8656-418a-a0c2-bc65ab655416 CLINVAR:181315 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a8038f1-34cd-4083-9be5-9dfaff8d6c40 CLINVAR:181315 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de73874-7f5a-4f7f-8d3e-dd0371d4a106 CLINVAR:181330 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c805c523-0ccb-4022-9558-3912cda06e91 CLINVAR:181330 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d204b002-6309-4a8c-bfeb-fdeaeb45182d CLINVAR:36831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 45b824af-53b9-4ab0-8f3e-77e527505a2f CLINVAR:36831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc80aba-6854-4791-971b-4e51cb5676d4 CLINVAR:1327611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab035880-a7ce-4788-be53-c8ce85b15cd0 CLINVAR:1327611 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0cabd45-952f-45dc-88f4-f725dab85276 CLINVAR:1327612 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 889db331-9c36-41cb-a858-3ca1ab1abdd8 CLINVAR:1327612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aaaa926-5e44-4bcd-9fa8-708a79d0efdd CLINVAR:1327613 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ff9cb96-aebe-45f6-8827-302c7338528b CLINVAR:1327613 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15caafcc-8d77-4f12-bc74-b02b10b535b2 CLINVAR:1327614 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06f01428-f201-4724-8a51-de5ccef03bb0 CLINVAR:1327614 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5360f5f-720f-49c1-82c6-24343d1965bb CLINVAR:1327615 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b6a6173-34d8-4dea-90f1-363c216694cd CLINVAR:1327615 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 177c2efe-2c5f-43f8-b34b-50df35b867dc CLINVAR:1327617 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67685f80-0ac4-4c61-9ec1-d6d77aa6aa06 CLINVAR:1327617 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a17ac8c4-da47-42f6-9d70-14fedb5d3833 CLINVAR:1327618 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d18ef20-5f7a-43f8-9fd4-7c6c83934b05 CLINVAR:1327618 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e525cdfb-1681-4c07-a7db-b0d7461b14bd CLINVAR:1327619 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 756879c7-f201-42b7-bad4-66bb750e62ba CLINVAR:1327619 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2435f237-3703-45b0-beec-e98931c8d4d2 CLINVAR:689846 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 930a89ca-c84a-4f54-ac6d-208a6def8de3 CLINVAR:689846 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a30187d5-d52c-4dad-8bff-1563fde457c5 CLINVAR:693460 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 101340d5-2bb2-488e-a4a2-f1857f0c0197 CLINVAR:693460 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9075126-107c-4a02-8763-e567733d2142 CLINVAR:692343 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1bb3b80-b90c-43cf-ac5e-789b3aff9a92 CLINVAR:692343 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df8338ba-f69d-4420-bf39-300f810bdf70 CLINVAR:1328511 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bc3627f-b9ad-4793-908c-1db4f832f21f CLINVAR:1328511 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 412059c7-e8ca-46e9-983a-1e9dd99a9eac CLINVAR:1328512 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47d8abc2-c7f9-455c-8d07-4c17aafeafb5 CLINVAR:1328512 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f901deb2-38bf-4961-ac2a-0f253b90f5d6 CLINVAR:693828 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b986242a-41f5-4e7f-937f-64b599c3ca1c CLINVAR:693828 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a6f13e7-d7cf-4be0-b4c9-54c29c2af160 CLINVAR:689941 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 892fde01-6391-45b1-93ef-b63a2ac66028 CLINVAR:689941 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d477b260-f966-4671-9997-963d4ebc9801 CLINVAR:102493 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 917a6cd5-952e-4f19-b6fb-cb93249f1ee4 CLINVAR:102493 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f549aae3-dab2-4a7f-ad83-7a7677b0bc2a CLINVAR:102487 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e288b069-1474-47ab-b3d1-505e458a9181 CLINVAR:102487 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c41417b-4797-4634-b66b-36e42a6c0750 CLINVAR:690123 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea9b1aae-ff75-4345-8f84-aff207c3d353 CLINVAR:690123 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4234e166-a25a-4701-ad00-6412cc5ba075 CLINVAR:102585 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63d8f4dc-7a06-4286-992c-059a04af84ab CLINVAR:102585 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8dda980-4ee6-4d51-b7c9-9424365259a1 CLINVAR:102611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0cdfbf3-3157-467d-bd6b-22a0d0ed4944 CLINVAR:102611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f1d3bd-1f1f-4049-b943-edea8c040710 CLINVAR:102776 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6cc6b66-1523-46e9-bd02-54bcba45e5fc CLINVAR:102776 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9195b925-03a0-46e8-974e-50e89c930e7e CLINVAR:102785 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd553d3d-62e9-4597-bd91-4521115873e3 CLINVAR:102785 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 952828ab-c0a2-496d-b4ce-d923ad627905 CAID:CA16020954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d67b8a7-d3dd-4a5c-a3bc-7ad11cef99ff CAID:CA16020954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 238fbc5d-cf62-40fc-812f-4dcdfff466d6 CLINVAR:370982 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 858f7bcf-17c2-4050-b9fe-c26aeead8056 CLINVAR:370982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c597e562-f887-44b2-9fc5-5cbe06cb70b8 CLINVAR:102748 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76ffa6a2-d3ef-465e-b9b7-45511542de07 CLINVAR:102748 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9019dfb4-9e1a-40ee-8ec4-a2b8096dff48 CLINVAR:102807 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 288a5abf-1aa9-4714-b3d9-76c0b133c88c CLINVAR:102807 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce54ccbf-3328-4147-817c-5311afcbf2df CLINVAR:133186 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8a71872-9975-4bc4-ab68-690c95a65b07 CLINVAR:133186 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1fb476b-c1c9-4af5-a374-0e5315889801 CLINVAR:133187 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6ae1c43-dc44-4732-9167-028956762755 CLINVAR:133187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 244b6c03-02e0-4f67-9d80-17f65f833cb4 CLINVAR:1330355 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af7a657e-85ec-431b-93bb-f4cf1ce60fe8 CLINVAR:1330355 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab3524f5-03c6-4fba-b4cf-e7c6f5b4046c CLINVAR:582065 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aedaed52-570e-4efc-942d-4624f5b9bab9 CLINVAR:582065 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db66dcda-c762-4245-a12a-1a99d116264d CLINVAR:161379 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16d6a70f-2622-406a-8b84-3dfed2353a3a CLINVAR:161379 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3ec9a54-6ede-40c5-8754-422fbe1eb7b3 CLINVAR:133194 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ede5647-ac1e-4c74-9d99-1a868e7125c8 CLINVAR:133194 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 504304e4-f30d-4916-9785-f27cfd911264 CLINVAR:133195 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b76044b0-786a-4ad2-8104-8bb69329c6b1 CLINVAR:133195 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b531ccf9-13c1-4256-b9a0-02612240ac0a CLINVAR:133196 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 534aae74-a91a-4d72-8598-8da8d5f0fb43 CLINVAR:133196 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1815284d-6b50-4544-854f-2c61a666482d CLINVAR:133197 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e4aaf23-f984-445e-99e9-fa5951bb7d49 CLINVAR:133197 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d3cfcd1-0a6e-4d40-804a-33c91522480e CLINVAR:133198 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3115e9b-6c55-4fae-8790-a65fc821f792 CLINVAR:133198 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc4ff559-5992-44dc-8fc9-c3c0c9064bac CLINVAR:133201 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e6d7c77-bd45-4834-9639-a12d006d5f8e CLINVAR:133201 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b20ea3c0-97ff-4253-a539-9f484de3fd06 CLINVAR:133208 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e76aea4a-c1f1-4eaa-8909-df4b3ca377f7 CLINVAR:133208 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eeb1ffe-f6ff-4cf5-a4bb-d6e830937a72 CLINVAR:1056224 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97a28e2e-0b13-4acf-a8d9-3f33df91baab CLINVAR:1056224 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4347ba1e-542d-4659-832d-2f3b857a6fc7 CLINVAR:133211 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d136184-b0f9-4e24-bf32-4b13d82606e3 CLINVAR:133211 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 292d6fbf-24b8-4478-a79b-5351bba44fb1 CLINVAR:93291 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69c6b5a1-7b0a-4f4e-811d-b516f2214409 CLINVAR:93291 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9268bd3-089a-42b8-843f-00854e17681f CLINVAR:654130 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a6b5d70-ca58-4b24-89d6-995f0d207c81 CLINVAR:654130 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52b0ce8e-0109-46b6-beb6-6faf018bd3b7 CLINVAR:1330356 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24a2cfe2-8490-4a70-b3e0-4cb9594396b8 CLINVAR:1330356 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7345cbd8-714a-460c-8298-1309d48473e4 CLINVAR:133212 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f152885-6f9c-465c-a533-45593543930d CLINVAR:133212 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec19c626-d13d-4978-b0ae-8a01fc14dae1 CLINVAR:1330358 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 759046b1-dafc-451d-a11c-f60611c7b517 CLINVAR:1330358 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e63cff4c-ec35-4704-9e40-630290ad94a7 CLINVAR:872586 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd8541df-edb4-4852-9df3-68e9a9d44ada CLINVAR:872586 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa54471a-c216-4bea-8971-43c3222ab0a8 CLINVAR:1330359 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16e05899-3296-48b7-a99a-3a1c92136d37 CLINVAR:1330359 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1948efff-c306-4470-b506-0a4d8abec5e5 CLINVAR:133217 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7789562e-5908-4e72-9733-68bab49846e6 CLINVAR:133217 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d6d5d91-10b6-490c-968f-ab6626d6eb17 CLINVAR:1308515 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c262753-d3bb-4372-b7f7-329fb9339552 CLINVAR:1308515 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 256a475f-eb2c-4c2e-8136-c9b71dfcbd01 CLINVAR:133218 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 738cab15-a6d4-4d6e-bcc4-4d95095c8e30 CLINVAR:133218 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ce376a9-122d-4a98-8293-de19991e0bef CLINVAR:133219 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a2df432-13b6-4376-9cfc-7834f405def1 CLINVAR:133219 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c46df418-0b0b-4684-a5a3-d5c331243e64 CLINVAR:133220 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66b4516a-9df1-42d9-a816-3881ad18319f CLINVAR:133220 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30331225-12ba-4366-9357-a2734445ec20 CLINVAR:133221 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b673184-488a-459a-8048-16b145504975 CLINVAR:133221 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61dbbd33-4c01-4050-87d1-7d1f6f337162 CLINVAR:133061 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 929c52d3-6563-43d4-be77-5c054131e29e CLINVAR:133061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15f800fd-b703-4b56-b91b-699fd6ae329c CLINVAR:133160 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fad6120c-5d2c-4719-a7c4-001f06e8efcd CLINVAR:133160 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac892d9c-88dc-421b-b227-082dd985a760 CLINVAR:133226 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2981713d-ae73-4d3d-b1b3-43331ac195ab CLINVAR:133226 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99fb5038-c3fb-4039-8f28-d338ad7ad1b5 CLINVAR:1330360 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a39c4dab-68c3-4ff4-896b-73a0ca8ee05d CLINVAR:1330360 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b710441-cb93-4117-8a0e-956945607422 CLINVAR:133230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4b31a08-fcf2-4550-9a47-3f2202744203 CLINVAR:133230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba1f6867-1da6-4e22-b402-2f2f7ed48404 CLINVAR:133232 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3591596f-079f-42ce-a18c-1d12ab8802fa CLINVAR:133232 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 584dade8-d63a-49ba-ab18-e6953c94a5e6 CLINVAR:1330361 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b026ab0-7cbe-4c6d-9397-0cb64a4ac28e CLINVAR:1330361 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5144be98-d93d-46b1-88d5-880b041e4527 CLINVAR:1330362 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4d3c24c-30e4-4c2a-ab59-c7bfb3af11b4 CLINVAR:1330362 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad29a90a-79b6-440f-a41e-bf0a7b1c7bc7 CLINVAR:1330363 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec68c969-2606-46ee-9721-223bd404f3df CLINVAR:1330363 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33dab8cd-f3d1-4173-9a64-d20ec5625338 CLINVAR:544516 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d77fae2-80a5-4266-a85e-f5112759374c CLINVAR:544516 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f175b77-7c57-41e5-ab4d-ecc41865550e CLINVAR:1330364 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab509c85-34c3-4be3-bf46-19ec0a277f8d CLINVAR:1330364 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b0f6bd0-5159-439c-9990-943b828a0e32 CLINVAR:133241 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 821a6d8a-b5ad-4812-a86a-486aafe33c39 CLINVAR:133241 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66a0c4de-a1d7-48f3-bbc0-99cce019dfcb CLINVAR:329090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 688ac89e-2803-4c92-83d4-dbfcdafcb016 CLINVAR:329090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79dde69b-b1fa-43f3-9022-6846b3a4ce34 CLINVAR:1330365 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca76ac08-2192-4d98-86f5-063299149ab7 CLINVAR:1330365 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ef0506c-ff04-43c2-961c-3619289769af CLINVAR:1010267 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffaf153c-dd97-462e-8d64-8af2d8d5a753 CLINVAR:1010267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 029d9cd5-87a7-4bc4-a36f-4e2087c89a39 CLINVAR:1330366 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8b182b1-f521-463a-9140-faa4c7f25300 CLINVAR:1330366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fd6f6ca-cea1-4f06-8b01-dff81cded45a CLINVAR:1330367 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b325d559-d3d5-4ab4-bc99-86e6e793a26e CLINVAR:1330367 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d0523f8-358a-4e4d-936b-4193475d5ccb CLINVAR:1303276 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2de840b-b70b-4d4d-8941-2dfbd5115c99 CLINVAR:1303276 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1b113c6-ca3a-4104-a36c-8be25c445e43 CLINVAR:1330368 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70daf31b-9ac9-4be6-98f0-de3173bb63db CLINVAR:1330368 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9127de29-45a1-4bda-978b-d24b69447250 CLINVAR:1330369 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdb59d6a-77b8-4433-a2f1-b80ba8f52846 CLINVAR:1330369 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d16e28ba-e53b-492d-9792-91dc10d5f981 CLINVAR:133070 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4e75352-5372-4324-a718-472b2ae146cf CLINVAR:133070 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc39aa75-bdd8-47fd-8c91-a9c43af10c09 CLINVAR:590630 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3e103c8-c724-403e-a061-89db8e784b17 CLINVAR:590630 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa34bfef-e99f-4e7d-acb3-6a0b828f88d6 CLINVAR:429750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8f1f856-7bc1-4038-aaa6-5ce517aeae3e CLINVAR:429750 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8635a6c7-b33f-4f26-b054-543a5908ede2 CAID:CA400029525 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90ebbbe5-58ae-48c0-9a53-b81218b02040 CAID:CA400029525 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 107e522a-1b32-4783-89ea-055b55f2559f CAID:CA399790170 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56f7a24d-82e4-403b-a940-c4e3ea85e301 CAID:CA399790170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb08a617-8ad6-440e-8356-c98fe75c5b76 CAID:CA915940727 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c8d8e2c-dfb1-4afe-bd23-1d36c1f73776 CAID:CA915940727 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50f94086-b442-4f51-a3cf-292ee6885405 CAID:CA400029121 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 163e02cc-c6e6-43d0-b067-5d9b71a2c360 CAID:CA400029121 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfe43bbc-7ee5-4321-9249-682d31cda768 CAID:CA400025209 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a4f017b-ef5e-46c0-9966-bf9f9f919f28 CAID:CA400025209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03f476e3-9a8b-4a6e-ba60-50becc46d12d CAID:CA915940728 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1ad1631-1c73-4596-aeb0-fc7fdb045f76 CAID:CA915940728 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bbfbf5d-1a11-4e59-80a4-1551e9862e0b CLINVAR:695455 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f35c098c-4ec3-47c2-ba1a-d0d7be7086b6 CLINVAR:695455 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c891d45c-d402-44f1-8561-548d2b6cd327 CAID:CA2499306877 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 935aff9b-cf22-47a4-a5df-b853dc2f481b CAID:CA2499306877 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e690fc8-51c8-49dc-b7e6-660d37757f47 CAID:CA399802112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cd47896-c33e-48e1-9138-19195ab015f1 CAID:CA399802112 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f816b157-5ae7-4d1d-9d7f-b6fbf9eabae2 CLINVAR:1330311 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abb861d6-b200-4ce9-acca-10939cd03446 CLINVAR:1330311 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 304def5c-947d-4783-8b20-c993e4484097 CAID:CA915940726 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3234ec7e-cce6-43ff-b0b5-9b2c0dea88e8 CAID:CA915940726 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c763b75d-ef77-415c-b9a8-a6afe67d045f CLINVAR:13565 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 220374bf-d10e-4254-8918-bbbe36356964 CLINVAR:13565 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 199ef32a-8c95-48c6-af9d-b997ff0a812c CAID:CA626684825 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a2c29fb-eda4-4721-a9c2-bd81c832b655 CAID:CA626684825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 409e6435-2cba-428c-8d7a-9882a25206b6 CAID:CA400028591 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0855d2c3-d32b-4dcb-81e8-0053838f0f3e CAID:CA400028591 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41c22979-3a80-430f-8e67-b3810e48ab48 CAID:CA915940291 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3098683b-96e4-43d5-835a-a254f9090cd3 CAID:CA915940291 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2224c9f-f243-47d5-8003-53f653d5f7f8 CAID:CA913012619 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 376d120c-19d3-4b5e-af6b-fa1dcc551d7a CAID:CA913012619 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43781df0-513f-43e9-ae3e-f6674fe6b3c1 CAID:CA399805570 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7129a7f0-3063-42b3-9e49-4635267684b4 CAID:CA399805570 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318cdf81-10fa-42d6-ac77-24aa80390b56 CAID:CA399802403 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e2ddabf-7c9b-479b-bf5b-545e8777fa8b CAID:CA399802403 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4378eba8-0f04-46e2-ae63-b860d5e8e77d CAID:CA923726222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a67c0707-7b32-4125-aab7-f1cd4f7aff01 CAID:CA923726222 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39490bb9-5458-4dbb-b8a9-fc895f9f4d8d CAID:CA923726221 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f681f5e-2c87-4408-bc15-c1884226e320 CAID:CA923726221 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 205adb2d-642d-4e1c-9c10-680b9a7068c9 CAID:CA915940256 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a047b67-4af7-468c-996e-a35ae2e4fc21 CAID:CA915940256 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae7bfa90-b93c-48be-add2-2328cc3a8063 CAID:CA915940255 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0673f65-740d-4f88-95cb-4eb002d4d648 CAID:CA915940255 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78995531-6920-46bc-8c65-6ea03be12932 CAID:CA400032429 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 816c01be-d1a3-49d4-9bb8-cd09019b821d CAID:CA400032429 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0466f68c-0792-47dc-8640-3cabf1caebf3 CLINVAR:13556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89dd2819-440c-4111-b59c-d062a0d1e0aa CLINVAR:13556 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63e9a0c0-f4c4-4c6f-a80a-144850c37ace CLINVAR:1330325 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f1ba9f4-226f-49af-89c8-1770fdb0ca5f CLINVAR:1330325 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f004cae5-7b26-4daf-8d33-9fe7ca7c83f9 CLINVAR:1330326 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcf91836-eba6-4d63-9256-a0be3cfe329a CLINVAR:1330326 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eaf49a5-1315-4003-9692-bd36a687d332 CLINVAR:1330327 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e37e49c-57d8-4dc1-94f5-411455dd1d6e CLINVAR:1330327 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1268550c-513e-4ec4-bb50-48ede3bce2fa CAID:CA399801004 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb4ee765-7338-40f8-80f7-3e62ff6cfa21 CAID:CA399801004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64d6d2b0-029f-4a62-8331-e4886d6428a7 CAID:CA915940253 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d64f6a4-09c4-4e0e-8112-de32e0a2cbc9 CAID:CA915940253 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f51b1f5-b708-4c86-b431-993fe2ecb90a CAID:CA400025098 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8b282bb-ea2c-4608-b703-17b6238987f9 CAID:CA400025098 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d352574-7789-4c0a-b71d-4313cae2a85e CLINVAR:1330333 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe2ea18e-3655-457e-a0f6-18cb9a8cc3f1 CLINVAR:1330333 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 071890c6-69c8-451c-aed5-c3d96d94da99 CAID:CA400032983 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9efb3f77-9113-4957-9ae0-968cf65f8ad7 CAID:CA400032983 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5088a0d-42cd-4b21-999f-09ca312f85f9 CLINVAR:1330335 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89ee9a5c-bc5e-4a12-bdf5-fdcf14c1c44d CLINVAR:1330335 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9dc56b5-ad78-41c3-846e-85ea33fa7fef CLINVAR:13562 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b83fa42-ee4b-400b-b425-bf89044ead5a CLINVAR:13562 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e8b9b25-2c7e-462f-9aae-466951c49ffc CAID:CA915940237 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5af0240-c149-493a-8b94-5f0c21c493ef CAID:CA915940237 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b1c5f0d-f3f0-4b16-ac5a-1853da1eede0 CLINVAR:1330339 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a193013d-d4bf-4ebd-85e4-451a49ed4539 CLINVAR:1330339 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09dc32a1-4108-4dff-b7df-24f43e1f3ca5 CAID:CA400021329 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1afdc1e-b95f-42a4-bf5c-207002df5a41 CAID:CA400021329 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58d1da99-7f88-4f45-b909-360c82afb707 CAID:CA915940309 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3f66c50-c184-403e-9206-531e4f72ad0c CAID:CA915940309 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cc7348c-e86b-41ee-bec9-4d3a9e5c8a43 CAID:CA399805691 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73e76edc-9342-4703-897f-a071992db54d CAID:CA399805691 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 916c42dc-82b8-4ff3-bf00-3686378c8785 CLINVAR:1330343 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9035b386-bc25-492d-96f6-5eff2f19ad4d CLINVAR:1330343 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 802d1152-867c-4f41-a3aa-2dd04550cd70 CLINVAR:1330344 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96a8f03b-4c79-4bb7-bdec-c6c3c455c242 CLINVAR:1330344 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cb782b7-6b7c-47a7-8b31-37afc846b5af CLINVAR:1330345 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59f08b2e-601b-4e23-8c87-9d08bb789ba5 CLINVAR:1330345 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 700137f0-7f21-4107-a141-a0bcc8db87aa CAID:CA399805552 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5fe9f724-a101-4fa7-b2a1-17f423490390 CAID:CA399805552 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ffae20b-093a-4d60-b1c4-4ee20837e283 CAID:CA399796017 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0434ec8-66fe-4784-8578-e759e26fc42c CAID:CA399796017 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ee7df67-3ff2-48b0-9977-4627c1ad0c7b CLINVAR:1330348 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b16af77c-286b-431c-89ad-5b6360b7f400 CLINVAR:1330348 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37395518-d101-44b6-b424-fc47a2a2049c CLINVAR:1330350 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fe57c97-af0a-4662-a7dd-209a654a18fd CLINVAR:1330350 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e986e9d-9a32-4704-bcda-c1cd0cf20ad5 CLINVAR:1330351 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24c9c096-53f6-435b-8691-70d68b0bee16 CLINVAR:1330351 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f896ea7-3193-4ff3-8852-83ba27cde701 CLINVAR:189776 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acb0c008-255e-4f6c-baa9-1332454b9ee1 CLINVAR:189776 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 510db87c-3686-45c8-a4de-e878168a8e26 CLINVAR:156661 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1afe5c69-c3fa-4e76-8735-42e907355609 CLINVAR:156661 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc7a9c46-ca96-4bae-92b9-72baa353d4d5 CLINVAR:143700 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b039d09-e9cc-4890-8b17-ff13987802f9 CLINVAR:143700 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91a144b0-a8fb-4485-a34c-d0f0cb663289 CLINVAR:143563 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a60ee905-5528-451b-a494-fdf70a536b79 CLINVAR:143563 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29352654-4573-42fa-b510-08197a577f57 CLINVAR:143590 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 675da2c9-9fd3-4c8f-b197-dcde64f8a93a CLINVAR:143590 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6139b0bf-c5a7-477a-9a8b-144e6f854fa2 CLINVAR:143583 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b041494-9535-4cb3-b006-44bac7cc0a8e CLINVAR:143583 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b29ec8ac-ea35-4f91-8cc5-2dc7b874dda1 CLINVAR:143579 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a196e861-53e2-4e1d-8bbb-eacafd5635c0 CLINVAR:143579 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9aa28dd-89f4-4b78-9b88-0398105e201a CLINVAR:143564 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 463c2ffd-ff80-45df-8a25-36ec66ed091c CLINVAR:143564 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6f7ee08-a3ab-4cd6-a6e1-b362c192028d CLINVAR:143559 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c6a3ec7-e32f-49ce-89f2-10a7081ecc93 CLINVAR:143559 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35f09014-1817-4243-bca6-e70cf0585975 CLINVAR:143552 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40eda029-14de-4be5-b654-3df074e396f9 CLINVAR:143552 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5169ffa5-3b54-46f7-81bd-08530df00d76 CLINVAR:143546 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a51b952-a698-440e-aaae-a8cec64ae2cb CLINVAR:143546 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b36b7a59-af92-4f43-9a3a-3a50907c542a CLINVAR:143541 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82119f79-1d89-46b4-b8ea-d44d717176f5 CLINVAR:143541 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 387991aa-3157-46ba-942d-ec945a3776db CLINVAR:1334145 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 660623bd-4915-4b17-bf10-4d2b8ac401e7 CLINVAR:1334145 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9537829-18c7-4efe-9768-0b5dcbec9bd5 CLINVAR:1334147 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21a8d450-bab7-4e38-bd90-2345ccb68c9f CLINVAR:1334147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb2f570-0d3f-4f0f-9a41-fe05e1cfb21e CLINVAR:1173962 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3672ba79-96d5-43cf-9664-c92ad65da0d3 CLINVAR:1173962 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e71a8549-3807-425f-afe9-25d508b23f4b CLINVAR:1334148 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6986cd54-a370-4eb4-aff0-fadca866323b CLINVAR:1334148 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 032311ac-5a5a-4a6d-9ed3-39c26e802cc5 CLINVAR:1334149 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20681140-ddbb-4688-8db5-220d918e1b55 CLINVAR:1334149 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7e5bbc7-429f-4226-b4d4-dc93902a6e64 CLINVAR:805632 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86b333b5-fc2d-4dc2-b6e9-0e2e42f7261a CLINVAR:805632 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a49737d0-6b32-4a21-aaf1-98f866546119 CLINVAR:586792 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfc3610e-4cbc-4c1f-8039-cfa76956ebb4 CLINVAR:586792 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0beff66f-6482-4ee6-a29f-5a253dbc6ebd CLINVAR:36826 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97eed2fb-dd01-4205-8e87-10822923efcb CLINVAR:36826 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3c69e2e-bc07-4912-b6db-4319fc586efb CLINVAR:420064 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 289ea4ba-fd7b-4aa4-8b11-1efb5367a4d2 CLINVAR:420064 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6c8f84e-d897-48a3-8000-75d037014840 CLINVAR:1334142 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1577ed4e-4361-4229-8002-1c440389268c CLINVAR:1334142 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa44c525-369f-4619-9420-3edecaa31fd2 CLINVAR:1334143 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b320e7e2-67a3-4f87-97f1-3eb2bb2bd729 CLINVAR:1334143 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd538b21-660b-4fdf-b441-ccbb714603c7 CLINVAR:1334144 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 734882ba-4c10-4069-8d62-aa705ca50f60 CLINVAR:1334144 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31621f2a-6c2d-4b30-9514-f735f82f67e6 CLINVAR:972754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d5191cd-07ab-49fc-ae5d-570b6eef0ece CLINVAR:972754 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f8db587-e085-4c09-8ac1-f2a5e2aa253d CLINVAR:447499 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd8c885e-c0f8-4379-970f-e2359f13499b CLINVAR:447499 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc20f000-ed11-4b0e-b693-b67d3dbc7ea2 CLINVAR:435424 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 216ddba5-f1f7-445c-be0c-3fbaf044ff20 CLINVAR:435424 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f14ef07-64e8-46d3-b14d-33e223b9d329 CLINVAR:972814 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80881f7d-007b-426a-a41a-c454cb5e1001 CLINVAR:972814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ade24413-be5b-4311-9dff-f7d532052fc4 CLINVAR:805637 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f472dbb-ce27-44b0-8092-e316529089f8 CLINVAR:805637 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4201112-1a29-47d6-98c3-622ebdfc1afa CLINVAR:129226 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80caca93-f0ad-429f-a316-5354b2421574 CLINVAR:129226 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 621c4ec5-65db-43ed-b4c7-720b64e36b88 CLINVAR:36796 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d6bbee6-4eb0-410d-b255-cadb416c7460 CLINVAR:36796 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a721ee01-f999-42bd-a217-bf5daa8434a3 CLINVAR:435426 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6be4088-0b9c-4591-87bf-7ff591a5d3b5 CLINVAR:435426 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d504c61-8866-4252-98b3-d05d4f66926b CLINVAR:36797 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1156d6f6-adfb-42b9-84d8-6d742f33c22a CLINVAR:36797 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16fd0ea3-6a4f-48b3-862b-116f5faf4041 CLINVAR:14928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 752086b6-40f3-40db-85ee-bc1c6f754b07 CLINVAR:14928 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d4dc4b-e3bc-4a72-ac1e-c66d5ac663cd CLINVAR:435427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31d17af0-7f60-41d2-8aa7-021346506dde CLINVAR:435427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43044a1a-ba9f-4eb3-ae75-b22a6bf3e796 CLINVAR:489311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34b88704-a6b6-4588-8235-5776edf1add8 CLINVAR:489311 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbf9bafa-2721-43f8-bca8-4daf02ee309b CLINVAR:449404 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0810bfc4-fb3f-4a39-b4e4-5b19e77a49b3 CLINVAR:449404 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bab9a0ee-02fc-4beb-8172-6aff96e91a2a CLINVAR:14947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 256758b6-2f29-43e9-b02a-833f16f7d657 CLINVAR:14947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 612d97cb-e97c-4cb5-916b-ea0004d443f2 CLINVAR:156667 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8208e36-380f-4f4b-b631-0825e751a3e3 CLINVAR:156667 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42614801-7b5d-42b7-9261-53f1a6af7c52 CLINVAR:440546 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b73ab11a-b12a-40bf-a738-c4fdc9664ab7 CLINVAR:440546 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ec68f82-ee19-4973-8e02-df0dad9565be CLINVAR:440552 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen baf78140-faed-496e-9c3e-2de195ea3474 CLINVAR:440552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e283937-3614-45bb-a48b-daa5460ed770 CLINVAR:161266 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e430c061-40f4-4395-8927-6855ca3bc9ca CLINVAR:161266 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f8eb860-295f-4c85-83c8-c2f2688470be CLINVAR:251213 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5d2b315-17ad-48ff-bcf8-f97d25b080b1 CLINVAR:251213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e7dbc42-9b75-4c48-9c44-1563c45693bf CLINVAR:251340 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adeb2f08-ad0c-478c-97fd-4e383994f40d CLINVAR:251340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dbe9d1a-6b68-4390-8689-94a81fbc9297 CLINVAR:430763 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27536c4b-9c58-47c1-83f6-7d7adcb5417c CLINVAR:430763 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7803c99a-b5a7-4649-9763-38c6642185b5 CLINVAR:251471 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c0eab62-f6af-483c-893d-90e9aa464d7b CLINVAR:251471 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd76daea-4f6a-4055-bfa5-fd5df75fcc87 CLINVAR:631358 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6eee17e-c3b3-4efb-ba49-da728fd497da CLINVAR:631358 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5070d04-bc1f-43c5-b056-4fa8fbfffc81 CLINVAR:252137 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcba391b-a74f-42e7-8027-36c401201547 CLINVAR:252137 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c98854c4-c18e-4ff8-8d6b-696478029d03 CLINVAR:161277 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d92e063a-885d-427d-9296-376354ba103b CLINVAR:161277 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eff085b7-5407-413a-a49b-a9ff2257b055 CLINVAR:373430 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43858632-54a1-4fcd-b45c-e753da58a0f6 CLINVAR:373430 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d77fc40b-1d36-4cf0-a356-63bc8738576d CLINVAR:251739 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfd6cf4a-fd7e-4244-adee-8694955b4d00 CLINVAR:251739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87d4a43a-064f-48d5-a158-79e020d2d19e CLINVAR:251740 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a49b3410-a6f6-4c94-aeb7-943eee3ea6ac CLINVAR:251740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75928330-bd1a-47c3-9d79-14464a12577b CLINVAR:431524 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdd7f816-83dc-4b3e-8d02-64145036df58 CLINVAR:431524 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ac665a0-dccc-4656-baa7-6f1c8b1154ac CLINVAR:226313 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fbfc140-1ef3-454f-b5a6-b3cddf54da80 CLINVAR:226313 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1e9972a-43c4-435f-8195-b079e17111e7 CLINVAR:251107 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab45e53b-9836-4b14-9985-3989df5adbff CLINVAR:251107 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4a40ffd-1e3c-4a58-97e2-a0b134b3da75 CAID:CA405685492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f917574-14df-4cfd-b755-a783f9f36f08 CAID:CA405685492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42d16fb6-cdc4-4836-990a-462e7123aa22 CLINVAR:1330371 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1de0ffa7-fbc5-4f98-9fa1-12fc171c1037 CLINVAR:1330371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c8d7872-af69-4fc1-8281-535ab3b324c0 CLINVAR:133100 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9aa125c-2581-4b36-8def-5db27f7357f1 CLINVAR:133100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8f769cc-6d76-4b8e-b1e2-311efebe51bf CLINVAR:65986 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9430af8c-a333-46e1-8f3a-30b2e37a3239 CLINVAR:65986 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ee9c84-e15a-4ee4-8195-5df7005cca1b CLINVAR:1330372 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab57acdf-1c28-4001-8b0b-f70f43c18e11 CLINVAR:1330372 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 043f8f2c-c85f-462b-b438-f8ebe6f7200d CLINVAR:161366 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90d16644-074f-48a4-99f4-1c80b59bf260 CLINVAR:161366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c81024f-5b15-40fa-8dce-25fb7c38a2d7 CLINVAR:133164 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d205f8b-c6e7-4348-8b77-dcb396280960 CLINVAR:133164 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37abbe5c-d1cf-4939-8edf-474dccd95c59 CLINVAR:12984 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14cd67ba-96e4-4970-953e-0de4dbd50194 CLINVAR:12984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 342a63d6-4b6c-4e62-9073-8aa18a6457b4 CLINVAR:374083 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e9a0866-1289-427e-83f0-e7eb26ef284d CLINVAR:374083 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04fdebac-ea8f-4feb-8969-ca2c0d734df4 CLINVAR:12982 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63172cd8-6fa9-45d7-8cf1-0957190330d3 CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5443792-d63b-499c-8d97-81d14a6534b5 CLINVAR:159865 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ab19803-25cd-4d66-97f2-c2dd646395d6 CLINVAR:159865 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e9473f-d595-4e37-8489-46abbded0e0a CLINVAR:329095 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a418b2e5-7aba-4054-ade2-b9203565b10c CLINVAR:329095 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e77a808d-b6a3-45a0-a14e-6c196f623a70 CLINVAR:12972 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff34a4c0-9218-4505-845f-7ff1088b8d54 CLINVAR:12972 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c92812-5174-42e9-b48d-c112b5addd0d CLINVAR:188773 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb3ade2f-3ed2-4a44-b81b-ee914377048e CLINVAR:188773 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6554d5a-51c5-4674-9793-fb333ae884f1 CLINVAR:371126 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02126bbd-9873-44ae-94ee-1e92802d6906 CLINVAR:371126 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 343039ce-65cc-44b3-9b71-9aae7836357e CLINVAR:933520 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c904ff3-e9b4-4462-bc06-2491897e1424 CLINVAR:933520 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd049eb2-f908-42d3-a075-8afc0973ec2c CAID:CA401360532 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c37d8bf-3f34-4580-a68c-ed06f7e6aa4a CAID:CA401360532 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cee3130a-1656-4f17-9c9b-99066d86ad54 CLINVAR:12977 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95d2bc72-22af-41d4-a127-65c3ec5c2076 CLINVAR:12977 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e437b17-0ab3-4487-9c64-179335164a01 CLINVAR:12971 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf695cfc-4bf3-4679-a85d-35eaf2ff7969 CLINVAR:12971 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0678a98-25a2-4cd8-b500-57582e4657e1 CAID:CA399805999 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38081eb3-c24e-4b06-96ea-af82bc90693a CAID:CA399805999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1275e64-6312-48fa-90c1-477c42afe655 CLINVAR:1342944 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2523beb-ce07-4162-b39d-e1ad56b20c77 CLINVAR:1342944 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bbda18f-c320-4f21-a48d-fc083c43a1be CLINVAR:447502 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d976a85-6456-41f0-9efd-acad0ad32d77 CLINVAR:447502 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45ff4e98-67dc-4979-a783-83ae95a6018a CLINVAR:251582 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d0b1a8d-1f80-4bd3-a53e-fd2be9604f1f CLINVAR:251582 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e0095c7-3009-42c2-85a8-d5a40b3853d7 CLINVAR:251812 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac254488-3e87-402c-9bf7-85595b54b5af CLINVAR:251812 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f063c31-70bc-48c1-93f9-992bdc81d4f4 CLINVAR:548076 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b0558ae-fef3-4bef-8f77-2b6e8691fbe7 CLINVAR:548076 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79cae0fb-9a8e-4abd-aa17-1133f3f67ea2 CLINVAR:440642 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f2effcb-f4ea-4edc-a3b6-f6abe124ddb9 CLINVAR:440642 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f43428e6-85ec-48e7-b376-cc22b2f00c3e CLINVAR:375840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 333a4207-3f5a-4f4e-95e3-42404b042514 CLINVAR:375840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 967c32da-3569-4370-aa30-48c4c3ca5aae CLINVAR:963080 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c185f0d-c76d-4ebb-b9c6-01443b2dd939 CLINVAR:963080 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf919bc1-52a6-481d-a374-82aae8ad14bb CLINVAR:183126 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91d125e1-374e-4b3a-860b-1d68839aaf2c CLINVAR:183126 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa10958-45bc-471c-847d-9d6938ea5a31 CLINVAR:252029 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99c6ea9a-3194-4205-8025-83528cc29405 CLINVAR:252029 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96cf93a4-49d7-4995-9c4c-3a4c0d4fb033 CLINVAR:1342952 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29435282-4204-4fb8-8b14-03aaef3e7a17 CLINVAR:1342952 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 115d9bdc-6c1c-4667-a8da-651dc245e950 CLINVAR:1342953 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d779ab9c-84fd-426e-b4f5-aac688730026 CLINVAR:1342953 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac22a09-d307-4668-94c4-9705837dddd6 CLINVAR:1342954 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fa226f0-645d-464f-8b0d-7a96175736d5 CLINVAR:1342954 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dac664d-6c78-4c7f-94d5-e1cc64ce01e0 CLINVAR:1342955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc351fb3-6f96-4e60-a6f7-484ab05f80ed CLINVAR:1342955 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0a67e50-98fc-499e-96d2-136287a072ea CLINVAR:1342956 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f980b8fd-5374-49c6-85cb-b402e1960de5 CLINVAR:1342956 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53e9072-014e-4f6a-9e0a-8aa8164ea9e7 CLINVAR:102812 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8579d3c1-2356-491e-b74a-ac80de8768c6 CLINVAR:102812 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 482a9fde-4b3a-44d5-88a0-94ed18f3b90e CLINVAR:102887 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ed4c31c-b02c-41e5-8d1a-f42e5a3fc2fb CLINVAR:102887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47a5bcda-188a-48df-8007-67e4f4f68932 CAID:CA386954870 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb0ca1b5-39fd-48af-8c61-1d86850ef3d6 CAID:CA386954870 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f06a377-143c-4e37-a9a6-43b761352858 CLINVAR:1342958 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b89e2cb2-793d-4b8c-9c83-9ed749013f9d CLINVAR:1342958 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2a444f7-104b-4f09-9d02-fcfbbfe6977f CAID:CA16020959 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 231c1054-edc6-4dcb-b389-e9faa0a3fbf6 CAID:CA16020959 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c17b0d13-f658-4e8f-84a1-bd406fa4a9d5 CLINVAR:102923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0982fb75-147a-4a3f-987e-809eea60277f CLINVAR:102923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ae2c44f-f590-4332-8bbe-772d7c6c64b2 CLINVAR:102862 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 250594ce-b978-4130-a740-a01b292dbb93 CLINVAR:102862 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a4e9ab-f826-40e8-998b-87b98d3fcdc7 CAID:CA16020979 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9b27ff3-06be-4618-b606-5ade9548bf39 CAID:CA16020979 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 795e8964-b27c-4538-b91c-74a2e7382298 CLINVAR:102468 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5e27aa0-0c5e-47bc-abe1-4364523ac380 CLINVAR:102468 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b6ff17c-8ef2-4412-babd-f94b584a43c1 CLINVAR:102790 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23fc8920-8199-4935-8cd3-2d7f98d61c90 CLINVAR:102790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da23bcc3-d9d9-40aa-ac3e-6e63fa23f164 CLINVAR:102791 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f07f1cc9-be13-414f-8d57-cff008d5eb87 CLINVAR:102791 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ebed007-00f1-4c85-a081-4a0a2f0c9c8c CLINVAR:102801 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5dbf6bc8-bc69-4a52-9dc9-54d29711cbe4 CLINVAR:102801 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f9f361c-e13d-47e9-947b-33657c7a3012 CLINVAR:102802 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59653592-89a0-4d70-a159-d5725261d32a CLINVAR:102802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2be9d3b5-c265-4816-9b72-c50f1a935a50 CLINVAR:102809 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2426c51a-2219-4765-bf02-7c0e1148066b CLINVAR:102809 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c67999-39cd-4347-be35-6532135e4744 CLINVAR:1342195 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2a01a02-4861-423c-8448-ca3a16a63c4b CLINVAR:1342195 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39a4b100-7843-4ea3-9e7a-c4a2aae920bb CLINVAR:1342208 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f91a55fd-4293-4c56-b158-227f3829d421 CLINVAR:1342208 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dda8b23e-316b-43d5-b122-f10da48f13b5 CLINVAR:1342209 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b415447e-77f4-4fc8-a0a1-4590ea1fac7a CLINVAR:1342209 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6770118-196c-4a7f-bdc9-cba667fd5e35 CLINVAR:7959 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e63c0a3f-b266-4b5e-9802-bbe05984dd49 CLINVAR:7959 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac2fc4f0-a93b-4260-a84c-655f2bb30a6a CLINVAR:1342210 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecade6a2-888a-4225-b11f-dab7a1279acd CLINVAR:1342210 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 291c4260-cf61-431c-b15e-a92ae359f5e3 CLINVAR:1342196 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e3e1bab-c207-4197-8951-f5fc7f68d5a8 CLINVAR:1342196 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 480a2f11-0ca3-4d77-82ee-f9a6fd4bb0cd CLINVAR:7960 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29b7cbcf-9462-4944-8018-d4df7e2fdc25 CLINVAR:7960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6f5a05d-594d-47e6-a23a-b34f7e3beab2 CLINVAR:1342197 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77eab102-f097-4f6e-b990-6528b9e2921e CLINVAR:1342197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77b728bb-fb70-4e7b-9688-63a271a282f5 CLINVAR:1342198 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0110e3cb-c5a2-40f2-ab22-afc1e4fb2517 CLINVAR:1342198 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec7db00b-f413-4ca2-a884-d2547bd07b6b CLINVAR:1342199 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ebe280f-c0b0-476c-afed-c1b726a9b081 CLINVAR:1342199 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 895b422f-5ee1-4466-a4e5-aa3c36f60518 CLINVAR:1342200 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65755d98-3581-4b17-9c0b-ebbc9868f978 CLINVAR:1342200 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49ad8a31-0990-489d-8f13-830c4f067ade CLINVAR:7947 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 107218dc-56f3-41c8-9e05-5028f846edd8 CLINVAR:7947 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e6af70-5fdd-4e31-a442-8272de1741d6 CLINVAR:1342201 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ad9ea99-d26f-436c-958f-85f0896b1ba0 CLINVAR:1342201 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4bf76e7-9f01-4fe1-b677-5fc264174660 CLINVAR:1342202 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92d829ee-926d-4dfd-9877-d01d20cd6024 CLINVAR:1342202 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73766e6b-c189-4490-92cd-27acc8d17491 CLINVAR:1342203 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7e2817f-bb95-44f7-9bb4-1f6238ef210d CLINVAR:1342203 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31807131-65e5-4c9d-bd51-c721b7817f32 CLINVAR:1342204 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d42bd21e-5b0e-4198-bbb0-f897c8bf4ec3 CLINVAR:1342204 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 391659f4-c2f1-48f3-8505-54455a452498 CLINVAR:1342205 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8335fbb1-3477-4ac1-b7c9-504bb026865b CLINVAR:1342205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14195773-167b-4af2-b381-dc5668511005 CLINVAR:1342206 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55908947-6f6e-4d36-b586-4c0193ea5f23 CLINVAR:1342206 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 738c0c59-3433-4259-aeb7-5de926c6599e CLINVAR:1342207 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f47cd10b-60a4-478c-a844-7b526d774a03 CLINVAR:1342207 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4820b7c4-cfd6-4505-9a3a-ebfc1b2db336 CLINVAR:1076425 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c0d0bfe-e31d-4423-9caf-2322d3ab899c CLINVAR:1076425 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fe15564-caf3-4604-aaae-1f7a878a6dc7 CLINVAR:617952 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d96345a7-eeb8-4e33-8954-cf091c485bff CLINVAR:617952 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b007d4f-0e02-4189-aef1-4430b1d14fdb CLINVAR:447493 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46afe7ac-76f7-49a8-a6b5-dcdcbab435db CLINVAR:447493 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bbd5e29-b07e-4d79-805d-f8910be0afa7 CLINVAR:1342945 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52f3beb2-7572-4f2f-9744-be7b02247846 CLINVAR:1342945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b696c3b-34f4-426e-a227-a9c41f9cbc70 CLINVAR:189172 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de553cc7-558c-4ae7-8bb9-811947cb117a CLINVAR:189172 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25f3538e-53d1-4d7c-817f-38cd980d8b11 CLINVAR:558634 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eebdaaa7-9ec7-4292-835c-3b70477534ba CLINVAR:558634 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b723acb-e176-423d-b29b-cae240d36fa8 CLINVAR:558604 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cec78cc-d61f-402d-8c88-f93b3447ae8a CLINVAR:558604 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c2c0276-9a5c-4539-bddb-f9ed2203ddb0 CLINVAR:1342946 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94bed0c1-4aae-4026-b6b3-82a285255cd7 CLINVAR:1342946 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2a4f148-6b36-47b5-8e74-393c9e563a62 CLINVAR:1342947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d6b6000-1d3d-4f04-a632-9e44b0c9b591 CLINVAR:1342947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca170b0a-97df-40af-9ba3-445ae2421646 CLINVAR:307454 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfbd143b-df24-404f-92a7-2346e1d56733 CLINVAR:307454 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4782f3a6-eac4-49aa-92d3-311e3e668161 CLINVAR:1342948 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b794cd0c-170e-4402-96e7-746f9603b55e CLINVAR:1342948 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78ff4e32-9163-476f-a3be-77e1e274e524 CLINVAR:36814 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0cd2bde-adc6-4e72-91cc-6bdf78aba95d CLINVAR:36814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f08f38af-bf60-4ef3-93bb-6304f512e6b2 CLINVAR:502525 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df66125f-2349-4ca2-890f-019437050e36 CLINVAR:502525 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a575fc6-a479-41af-9e29-65041d9f4f36 CLINVAR:1342949 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba20a65d-45d5-4c9f-b5f5-4c0ce90fde9f CLINVAR:1342949 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d61872dc-d764-4240-b0f1-ce6c096b4fe3 CLINVAR:1342950 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83c171f1-7011-4531-b4a5-e440c9121d21 CLINVAR:1342950 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea84f303-8ed4-433c-a935-903d5d98a396 CLINVAR:1342951 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9af156da-32b8-41dd-9aae-05cc8ff6b793 CLINVAR:1342951 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63b0b7b6-4fa7-4cd7-bd92-7ae5e1e2615b CLINVAR:1342967 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf3b0a8d-3700-41a8-a52c-00f98e4e14c3 CLINVAR:1342967 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eac5424-7c0e-4ee7-b3dd-51b07fbae36c CLINVAR:1342968 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07dc61c2-adf5-4aaa-8dc3-99a63eaf076d CLINVAR:1342968 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89008b5f-755f-4210-a9ba-765d00c940b1 CLINVAR:1342969 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 843ec444-ff4a-47dc-b8a6-dc6a7857b335 CLINVAR:1342969 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0da39698-aaae-4bdb-b23f-358ca400f765 CLINVAR:1342962 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97781b38-eecc-431b-984c-effa66dc9d63 CLINVAR:1342962 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6ee206b-6e51-44cb-adb5-42045fa66dcf CLINVAR:1342963 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9d5dacb-3d45-4922-ac25-0a38a8306e51 CLINVAR:1342963 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef9f8b18-d60c-4a65-b7f0-cfc78b51f3d4 CLINVAR:7949 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba71c204-1ab9-4652-afa9-a572ab5f7798 CLINVAR:7949 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6ac34e-6f79-463d-bb8f-b46e7af3e13e CLINVAR:7948 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab9fe720-3715-4237-9bac-46cc8b28bed8 CLINVAR:7948 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb8a3b34-36d4-4280-a9fa-2f64681b4322 CLINVAR:7961 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d1afb0b-5ae6-48a7-8823-4c3e8421f306 CLINVAR:7961 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e89c8b9-060b-44ff-aff5-8358c11fa6c6 CLINVAR:1342964 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c178b36b-7989-4774-ab58-20f6d87ccd3d CLINVAR:1342964 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5d2ccf0-6e21-40d4-927c-ca7fe0b218f6 CLINVAR:1342965 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6520abf0-e750-47ee-ae0a-5e5394d32851 CLINVAR:1342965 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e979709-f73c-4c2e-aa71-f48f0e08b5a9 CLINVAR:1342966 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b1ed520-9d79-488f-b5ae-75e0bec46450 CLINVAR:1342966 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88e1e215-46ce-4603-852b-e606b5b2a538 CLINVAR:7946 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8aa93cf5-b59a-4af4-ab4a-95bd6cace04a CLINVAR:7946 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99c77e94-6363-4b71-9e9c-43a38bbf2d81 CAID:CA397726277 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8e95785-7dec-4cbd-ac63-27d27a009404 CAID:CA397726277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd40b50-a30b-42d8-865c-52a4101b9828 CLINVAR:554491 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e2db5c1-0e42-4909-b316-48eec0f74cb2 CLINVAR:554491 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a16624f5-cce9-498d-860a-494533ff2283 CLINVAR:189159 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51844b21-ca6f-49d4-b2be-3bb700709e30 CLINVAR:189159 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de1679f0-ea78-4722-b726-4cef3a23743c CLINVAR:474900 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa9ac237-1a7c-45f4-b307-253716aad8f5 CLINVAR:474900 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09736861-9c77-4c3a-b595-d725b9f749a7 CAID:CA624861219 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c787e96-07c5-400b-938b-efe29fcf3c74 CAID:CA624861219 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be3f74be-58ad-47f5-b035-a07f04f39465 CLINVAR:386274 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fd9e2ab-883b-4748-a716-43f2bc3fa4fb CLINVAR:386274 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05d8328a-91ca-4409-9f5b-1ced64359ccf CAID:CA397723028 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0967a408-5016-494d-9129-a7974017df35 CAID:CA397723028 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd78de24-c355-4c62-a7fa-2fbb87b311bc CLINVAR:141522 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69626a06-e590-4589-8a2e-b712c2e742c4 CLINVAR:141522 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3451895-06ca-4352-a8f1-5892e319ff68 CLINVAR:453341 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8eaa79cc-5430-4e59-97d4-5264be338ca5 CLINVAR:453341 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d3f184-7a81-4fdd-a591-1d990570cf74 CLINVAR:583716 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6e590c6-2d57-4e9f-a0c4-3017947f3f37 CLINVAR:583716 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 459d8293-2b13-42f7-9651-698772c55f1d CLINVAR:453461 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04a15dc7-83da-4e66-8f50-36106b9ea9d3 CLINVAR:453461 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e060726-3385-477c-bc62-9beee8aba796 CLINVAR:231535 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ceecca7-5cf2-4066-b19c-2c65456c353b CLINVAR:231535 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d33169f-660e-421f-902f-62fbc1670f39 CLINVAR:3018 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdc55149-0128-428a-b5cb-84b99a3756fe CLINVAR:3018 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed3cd7c0-0d60-47c2-85cb-dac4fd795fa3 CLINVAR:3033 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 975a19ad-899e-443e-956d-8b5a9eb18000 CLINVAR:3033 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f082fd12-6d02-401d-a3b8-ef022568f604 CLINVAR:818362 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f07eb4cd-524d-4b89-b0a5-e359951e9395 CLINVAR:818362 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbcafb7e-30fa-4758-a618-b573c62af204 CLINVAR:140818 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1540697-bfbe-41c0-afb3-8c84d86085c2 CLINVAR:140818 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df0a41b6-d9a4-4689-8a53-24097c058841 CLINVAR:407718 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53abb3f4-473c-4eea-89d5-2b08bbfbedcf CLINVAR:407718 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aaca808-7525-4b1e-8907-846a5fa6183b CLINVAR:929198 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1eb2454c-6bde-4aa6-b15a-ed12a31daf84 CLINVAR:929198 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd99b54-7db4-4441-bbb2-604f210c7b6d CLINVAR:220555 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 593cc28d-fb03-401f-a7e3-184ea568f589 CLINVAR:220555 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05e0e27f-9f35-4903-9277-a477a610f3c1 CLINVAR:186558 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7462baf2-4354-4d17-9bd0-949de5766366 CLINVAR:186558 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ed6a072-9d37-4df0-9b99-8ac4e4facea7 CLINVAR:231842 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d727c34-91c7-4d10-bad3-c85cc479a198 CLINVAR:231842 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5caa180a-a937-4c95-b4e6-8d25d4c48dde CLINVAR:490737 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ce540c5e-d966-4f1e-b210-489cb12f97c8 CLINVAR:490737 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fec9008b-cd59-491f-80ad-d4226e29711a CLINVAR:3023 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41f2df90-043d-4157-9725-06cd542a5d3d CLINVAR:3023 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcfb20c9-3ac9-4f17-b1fc-7009b8634236 CLINVAR:133641 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ef0161d-8391-4f85-84d1-537064ff64c8 CLINVAR:133641 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023c8df3-2d26-434d-b0af-b30c88a3896e CLINVAR:420799 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb0e6768-89c2-416b-985f-4cdf51220b05 CLINVAR:420799 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eac1561-ce95-4502-97d5-841113c26513 CLINVAR:187275 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54af609f-55d9-4311-b253-667aef7ed411 CLINVAR:187275 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b48c059d-9afd-4e60-97d1-88222b932b8b CLINVAR:141289 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af4aa84e-02e5-4a16-8b5a-90b2989eebfa CLINVAR:141289 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2836f23-8559-4c17-9901-42c3d8b66697 CLINVAR:3029 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a112a16-4e5f-4174-ae94-689bfe815371 CLINVAR:3029 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85890dca-a098-450a-9ae6-65cb2763384a CAID:CA16020825 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 714eb1a5-cc13-42b5-84fd-6f810837d463 CAID:CA16020825 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 894a4928-1e41-4f9d-9fae-9664d8296bc8 CLINVAR:102534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b846853c-8787-43a2-bf64-8fb7b1140e62 CLINVAR:102534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de2b2f25-87ae-48f7-81ee-57d556f09ff0 CAID:CA916084428 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c55fac15-a261-4d3d-9453-d13d838f6111 CAID:CA916084428 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eecf879-7640-44fc-849c-230f92ce2eba CAID:CA645372267 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b88cbec6-5f95-49fd-b537-b2db9942f1cc CAID:CA645372267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6cb2802-3ab9-4a8e-b686-f8d5a11859bf CLINVAR:102820 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a51f388-7a26-40f5-ac9f-4ce724d3c342 CLINVAR:102820 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bbb08c4-ed93-4430-855b-72a3e7472261 CLINVAR:102813 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84118e1d-3279-4077-b04c-fb79ee6c85c1 CLINVAR:102813 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 234627fd-ecda-4c12-8c11-996740a4c3ff CLINVAR:102822 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90d5ca5e-32cf-4dda-8b6e-d6498a8d318f CLINVAR:102822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6649a5b5-396d-40db-bab6-d5769af5e84a CLINVAR:102830 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04906a9f-e7f9-49bc-97e5-0048a9c19bac CLINVAR:102830 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7966e7d3-ab7d-4f21-8cb2-f8d04e87fa8e CLINVAR:1693230 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9db5f34a-c039-46ab-b0ea-e066af4c0115 CLINVAR:1693230 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d8a2da2-47ab-4600-a545-af7c4793d227 CAID:CA16020845 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1b95921-b031-410e-84fa-0dbcc70ce680 CAID:CA16020845 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50b72950-732d-45ee-af3c-8a6f1dd00394 CLINVAR:650581 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d34e85be-21b7-46d0-96a5-e5d672c115e1 CLINVAR:650581 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80476463-5003-4c92-9bdd-8a3fcb81732d CLINVAR:453367 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5dcaa068-9d4f-4aa1-b235-86bcf60f07f1 CLINVAR:453367 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53d45d5b-a497-4247-ba73-be8ee26010e5 CLINVAR:449521 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36d7da4b-e870-461b-9d96-e01c3f72024f CLINVAR:449521 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0816622-7bdc-459c-afde-a8d9de82bd84 CLINVAR:562372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a2d7a7a-cb00-446d-a3bb-ff478ba27fd4 CLINVAR:562372 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d9b0ad-5b40-4fe1-854e-181874baeafa CLINVAR:40153 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7807e7bd-9757-4df6-863a-964d77c39825 CLINVAR:40153 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fd24e16-6dae-4bd0-a8c1-0868be154243 CLINVAR:9650 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 014c180b-347f-4bd8-adc7-7427affb97e2 CLINVAR:9650 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 626e4a57-23de-47b0-ac03-1c3e091e0bea CLINVAR:9645 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 288b5842-494c-4b9d-af10-03546d3c9441 CLINVAR:9645 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479861a3-b51f-4953-b239-629c974df3d3 CLINVAR:9733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d9e5b6d-68e9-4ee3-a146-930ca9ee51d5 CLINVAR:9733 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 247ea939-0c99-4dfe-bad8-f57b8e1c6ee2 CLINVAR:65519 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbb65f8f-4781-4c56-88d2-d73f6ffdd551 CLINVAR:65519 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7dce67a-5a72-4113-a318-dfbf8b55e984 CLINVAR:9736 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1350d9a9-83cf-40a7-ba8a-6c8d58cf27f8 CLINVAR:9736 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93964d52-7b30-4636-a41b-ff53a287a137 CLINVAR:1675057 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24137dbd-47ad-4c5f-9a22-592e04dc2046 CLINVAR:1675057 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fd64913-5d7b-4bab-9c65-5a83c0059bdc CLINVAR:1338407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0b10798-e5a6-4b23-bd08-d116274b5414 CLINVAR:1338407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 575d2026-48a0-44cc-b7b0-e7751fd7c317 CAID:CA386952304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e17f7766-18c4-402c-94f8-e4dc115cfeee CAID:CA386952304 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c03899d3-ef0b-46e3-b2a9-1919a97f8b1c CLINVAR:994546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b36c9928-0c1e-417e-b900-cab195924491 CLINVAR:994546 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e6697ca-1267-4bb8-84de-70326eac91de CLINVAR:1675061 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5db04a2-e356-402e-b4be-18b837ead924 CLINVAR:1675061 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea7d3d61-9722-4e79-8d7f-0632994c9bfb CLINVAR:1675062 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb2ff50e-560a-4826-8a28-efa0fef2f347 CLINVAR:1675062 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd15f0a2-5354-42de-9ea7-2d5493fb47db CLINVAR:1675063 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60c036b5-b0f2-4960-9f09-4b939165dd26 CLINVAR:1675063 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 493dbb24-c751-48e5-b89f-746d928c4895 CLINVAR:1675049 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c184585e-64cb-4742-a495-8d19341a99a7 CLINVAR:1675049 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc12faee-e610-4d2b-9f0e-61e78cea550e CLINVAR:435422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0c6319e-568d-4f06-9b08-2edd3d6da2fb CLINVAR:435422 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcd86c0e-3a55-4cd6-a3ae-2adfeec3c082 CLINVAR:12976 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bce48ae8-7c41-4166-a62c-86a0e029be98 CLINVAR:12976 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e50e2a4-bf89-48ef-99c7-2dd6f410f1ae CLINVAR:12967 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e25fdcf-0fef-4b88-9b61-9a566922f59d CLINVAR:12967 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fff31a4a-e2c6-4b54-bbfd-8bd281cebe65 CLINVAR:133029 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4d9c625-7b50-496e-a398-3b794569081a CLINVAR:133029 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 091332c8-e22e-41fb-b9a1-8155cee80812 CLINVAR:133106 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c97857b4-3912-4606-9c12-9b0da044efea CLINVAR:133106 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53342993-586a-4ce1-b05e-0b55de01e548 CLINVAR:12974 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6014bb3-53f8-45b9-9241-f4f0724f024b CLINVAR:12974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12715f66-5d96-4c70-95e3-4c5097416fc1 CLINVAR:1675050 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 892b21d8-bc73-472b-bf24-6d22b0aa3ac7 CLINVAR:1675050 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e211948-b671-4b81-b22d-6b438bf6b310 CLINVAR:1675051 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cbdd41cb-1c36-451e-b81e-7065dff04770 CLINVAR:1675051 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5366050f-0302-4813-bc46-effbf333bd2a CLINVAR:1675052 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f983936-4233-40e2-99f3-74aaa02155b8 CLINVAR:1675052 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4319435f-a154-4846-b2f0-251a300f3888 CLINVAR:251552 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b75fe672-86aa-453a-83cd-82693e7a7544 CLINVAR:251552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5df630cd-61ff-454a-810b-5a76df29fdda CLINVAR:996231 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6d5d993-13d2-455e-85d1-db9b9e94bf57 CLINVAR:996231 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c3795ff-3159-4b80-bef7-671b3c703b4e CLINVAR:225097 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8a968969-fa37-4be1-91bd-46ed2ae6e213 CLINVAR:225097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d426b2f-3bb7-4df7-9cba-1ce37f836501 CLINVAR:251747 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe3de78a-f690-44b2-9e83-a61600005afc CLINVAR:251747 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c8918ed-d0ab-4b2b-bc9b-73994a8e98bd CLINVAR:183123 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ea5f13e-d594-4e5f-8532-7c19d004334a CLINVAR:183123 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37bf7698-6910-432c-8edf-2a452d2bd049 CLINVAR:251996 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen faf3c5c9-2d04-4c72-be54-b2acb9c50b99 CLINVAR:251996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e6e9d72-c1f1-4d64-b0de-041d0526ba84 CLINVAR:237867 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99d05192-48b2-4c74-bcd0-ced6070c0b7c CLINVAR:237867 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 187dd826-e292-4693-ac69-698c6c53c977 CAID:CA2573051031 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4583d228-fe40-4727-8fe1-a51e88e452ca CAID:CA2573051031 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e281d47d-04c3-4c2a-87b5-1b845743054b CLINVAR:1675054 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bc0239d-c306-4fae-8d8d-613a831d8a00 CLINVAR:1675054 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd4e8ff4-7b60-4e7d-8e54-9a89f99cc0ba CLINVAR:1675055 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0458db3-86c9-4d5f-a1ed-eb7ca22da815 CLINVAR:1675055 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 892c141b-6655-420d-af05-c8ade88b0d0b CLINVAR:1675056 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78d56842-6621-432b-b781-e59e7da990da CLINVAR:1675056 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 144ff05a-0c07-426c-9238-eb2e3e9e3e08 CLINVAR:972749 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17abc857-449b-47f6-b462-f5accb16acdc CLINVAR:972749 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0602129-14f1-48da-9d64-0024c51c789d CLINVAR:418252 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd57d871-c933-4c31-a3f1-7f2107a341ec CLINVAR:418252 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 026d175b-06a0-4f5c-a30f-56a4ab0b16b2 CAID:CA2573051032 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68f77cca-b1e1-4477-be50-414e61d23a46 CAID:CA2573051032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 522da76f-5df7-4d72-9516-5d2258ef7824 CLINVAR:134506 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81f7b1f2-c520-4ac8-b948-d3656b116817 CLINVAR:134506 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc448212-9775-44bc-a292-8e17181f9647 CLINVAR:1675059 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dac671f4-a911-48a3-9ad8-79029c8fcfba CLINVAR:1675059 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 928f8e8b-f673-4173-b149-e36552246675 CLINVAR:1676683 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eae936f7-21d6-47a3-b74b-629d2234749a CLINVAR:1676683 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e951c563-29d3-404b-ab07-0de628aea64a CLINVAR:1676692 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce105193-71db-403b-90bf-7ca1d5d941fe CLINVAR:1676692 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e526e8-f59c-4486-9435-030aa0ee76d8 CLINVAR:1676699 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 995e4582-b273-46b5-892c-88cb219af3a0 CLINVAR:1676699 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8508dda-dc78-4fc5-acdd-1574c6a4f269 CAID:CA386952811 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ed994bf-4b02-4fc3-8dcc-077fddf6a58c CAID:CA386952811 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3130022-ff25-49d3-8f35-d993e5dd4d49 CLINVAR:1676707 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8930c7e-740b-4614-863b-9c802e6cde91 CLINVAR:1676707 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0973ad4-e008-4932-a962-6f24fb623b1e CAID:CA386953008 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28eaf1e8-4e02-40d8-8efa-35a90ee60a1b CAID:CA386953008 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 539767fe-4d8a-4ddc-bb4a-fbe7543ad2d7 CLINVAR:36798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4092ae15-49b0-4972-b4ce-b4f8ed9d98eb CLINVAR:36798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa2eb60f-77ca-441a-a8ac-e99f72eb480f CLINVAR:1676720 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f416b164-cf48-42ad-bf96-a91fec889ca9 CLINVAR:1676720 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd7515d5-011a-4f13-ada8-6fdfb8dad41e CLINVAR:882461 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b40ea8ad-9f46-4473-a599-38a5f10e6d47 CLINVAR:882461 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c31e300-7d6b-46fc-9546-0626b3477f13 CLINVAR:1676684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 580f0467-b997-4962-b45b-68a2905d52c9 CLINVAR:1676684 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 747e4fdb-abbf-48c4-8606-1236a18ed81b CLINVAR:14938 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc284089-118d-4c2b-89ea-fe8b19b19414 CLINVAR:14938 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f07508-5371-454e-889e-cf777759e695 CAID:CA2573051034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 324bf681-295f-4b11-ab12-20edad2b4399 CAID:CA2573051034 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e43fee9-382b-42e4-8e3b-54213bd91ba6 CLINVAR:36809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98ffa834-bec4-4bea-bc0d-4a1d37dc191c CLINVAR:36809 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5540a449-793f-485f-b4a2-cfe520988598 CAID:CA2573051035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f96203f-6b2a-4338-b089-b38e54998140 CAID:CA2573051035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f153d69c-d163-45fa-aad7-a226179ae3d8 CAID:CA2573051036 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6064ddb-ed64-485b-852e-bec808b18a9f CAID:CA2573051036 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa21e981-7c60-4a74-9353-0cf862bdfbc5 CLINVAR:1676688 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21825046-e44f-4765-a56c-374ea97fed80 CLINVAR:1676688 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a67f8af7-bc0b-4c9e-86c0-40aa06ab8f40 CAID:CA2573051037 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fd98b4b-5bac-49d2-b5c5-b7da2a87fa29 CAID:CA2573051037 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cfc1f47-0396-4635-8342-bdcda1d3ff8f CLINVAR:1676690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 692af568-3e29-4859-a21c-4d89113c4ea2 CLINVAR:1676690 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5a38222-153e-4fa7-a194-d0db17d50549 CAID:CA2573051038 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44a5dc68-a9a1-426c-8448-5608edcd687d CAID:CA2573051038 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d1527b2-9bd8-4f10-866e-55498c89d9ea CLINVAR:1676693 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9b29c04-9c01-4b18-b16f-12123cbead89 CLINVAR:1676693 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a96f48d-cf07-4bc3-8536-abcee1d62075 CLINVAR:1676694 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 638aba6b-c939-4d1c-a669-a2014379a783 CLINVAR:1676694 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4041477-5971-4231-8c8c-f916d6683d10 CLINVAR:251581 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b16f1f22-045a-4deb-b047-1a96c7d438c7 CLINVAR:251581 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bae6566-420b-4e1a-b41a-b02ac532a384 CLINVAR:3692 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 511206cb-f40f-4421-a8a2-5b27a878c032 CLINVAR:3692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 890a087a-9f13-4709-bdbc-7e975d8687b4 CLINVAR:440612 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f24d8a1-de97-4f0d-a7b9-03ff4739d78b CLINVAR:440612 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7eb5f44-857e-48bf-8a77-87de2e7444a7 CLINVAR:226336 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05a16103-1241-4862-8d7b-6ce6b6499e78 CLINVAR:226336 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fd2e75c-4f14-4ea1-92bd-ac135565b155 CLINVAR:251532 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e0045af-3e02-4efe-ba5f-7674918b7e71 CLINVAR:251532 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93e85b56-9217-423c-81b4-27876f77a7fa CLINVAR:251531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c87fea80-0907-45d1-bca6-7085d97f9d99 CLINVAR:251531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50425403-9f5f-4ae4-a9fc-211c72761e3e CLINVAR:251782 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e2126c8-a0cf-49f1-af96-473525d5bf23 CLINVAR:251782 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c396b87-646e-4e49-acab-e56ac4951954 CLINVAR:251784 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6f5b5c6-2fe6-4782-980d-05ab79185198 CLINVAR:251784 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dae7fedd-2de2-4460-ac0d-aeda5f5f3524 CLINVAR:189296 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cee55a8-c797-4c40-9fbf-ca64c008b53d CLINVAR:189296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01a3ad69-7f87-45cd-a8af-03a0e9757d8f CLINVAR:200920 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ef6e1c9-cdab-491d-ae44-b592e2836d72 CLINVAR:200920 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eb432ba-f150-4014-9d0b-18df7fe59b8c CLINVAR:251505 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51b77c06-5a0a-4851-b7e7-4fadad68c968 CLINVAR:251505 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5447df3-02e5-4cfd-9904-8095a9d3592c CLINVAR:441198 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2f16aea-1761-44ce-a38d-1353f587ed40 CLINVAR:441198 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3be6a199-a83a-4ac5-80fc-996d4591feeb CLINVAR:441197 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e814926b-37df-4ef2-a449-875a9fb70e33 CLINVAR:441197 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa5af3fb-a706-40a8-ba5f-96e2297331a4 CLINVAR:998053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91ce5a0d-4f3b-490f-a1ae-ab7319953a09 CLINVAR:998053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a950287-2dfc-4039-89fc-b56f21807e95 CLINVAR:200923 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen add31bef-8b8b-4b20-b2fb-55d80c6499b3 CLINVAR:200923 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d9340b4-8320-457b-a8f4-43b96c2d1fec CLINVAR:251102 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23775258-8362-4a94-ab62-f44e4e1e737c CLINVAR:251102 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94193a2a-1537-4a56-8294-8eadf92716b1 CLINVAR:541714 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2526a487-faeb-46e3-8553-b82ecf149cc5 CLINVAR:541714 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c565e6c4-1f62-4038-be50-a0d4f76955ff CLINVAR:932830 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8b31130-6b5f-490c-9c99-a66fc6afc883 CLINVAR:932830 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 532352d4-9d57-4bb9-aa1e-655a050c643d CLINVAR:552361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ebbf68e-a85c-4298-81d0-72202f36aae6 CLINVAR:552361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f1922ef-911c-4f05-b052-d3aeda97c68f CLINVAR:541718 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8780fb45-a681-4157-a2c2-5f215b40aa05 CLINVAR:541718 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1234342c-5418-4e9a-8c94-af6cb642b160 CLINVAR:857574 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f7ef0c8-97ab-440a-a61e-3e24610655e3 CLINVAR:857574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e45cdce5-90b8-49a5-8cbe-6454cb3cfec5 CLINVAR:550796 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2f42d13-2fce-408c-adb1-8bdf40ade24d CLINVAR:550796 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba97c8ce-fc17-4549-94c5-88307cc8ccb6 CLINVAR:203588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8d94764-ecb4-4535-bdbf-439e1ea1f7c7 CLINVAR:203588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0496d140-c126-48e5-9c55-096e8bdaeb62 CLINVAR:943198 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85c6b16f-1364-48f7-9c09-15444a98536f CLINVAR:943198 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f94078-1b06-4de8-9485-b42fb787da15 CLINVAR:932733 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cb31069-1efc-42da-899d-e931b1144b6e CLINVAR:932733 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a7b9ee-38e4-4a1b-a0f6-512dbbc032db CLINVAR:569888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f1d34fb-772a-4f4b-bd82-5163d29272ee CLINVAR:569888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bae232b5-5448-4e40-8df3-0d1361deadc5 CLINVAR:556238 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d2640e0-25ee-4ea4-9d8b-496f4d6dec75 CLINVAR:556238 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4ab7745-b026-42c3-99be-ecfd7ac241ea CLINVAR:932734 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14f061cd-039d-447f-ac38-c471a1c06684 CLINVAR:932734 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5990e076-5232-4b59-a79e-9267f0069e37 CLINVAR:189116 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 223fb794-79b3-4858-adef-2f387c2c2acf CLINVAR:189116 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90e976a1-f258-45cd-884e-842423e225b8 CLINVAR:474896 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f4fc444-91ff-46a7-8f0c-df38dfdd54d0 CLINVAR:474896 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aadce88c-6572-4f45-938f-9edae047405d CLINVAR:203594 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d6fafbf-bef7-44c4-8502-311bf8a4d90f CLINVAR:203594 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 171241a5-259c-43ff-8573-65fb600b3f02 CLINVAR:1624 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen effb726b-fd4e-4c70-8ba7-75e70f1c5c8d CLINVAR:1624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c173bea2-4d9a-4a95-bf7c-7e7a8e6ed964 CLINVAR:932735 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecb41e01-4a9d-4150-a50f-be7df66c9366 CLINVAR:932735 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 629c4a0f-750c-4355-bc21-a7381ed09ba4 CLINVAR:1074732 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed251f5e-0c2a-407f-a281-939408309682 CLINVAR:1074732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80148a1c-966a-40a9-9a25-745127de3de7 CLINVAR:951288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c3bf3cf-9c69-470e-8807-01dc47e6fa7c CLINVAR:951288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 134c0291-e3b2-4a03-8e60-71cedf57aefc CLINVAR:1676695 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d320e02-1210-4a99-a0d9-8d40e51ff117 CLINVAR:1676695 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abb9f75b-3e02-47d2-be90-d712ebbd003c CLINVAR:36816 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1e71fd6-58f4-4c32-b150-9143a85f2198 CLINVAR:36816 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28109eb8-daa6-4e19-9b90-02687fdc0929 CLINVAR:1676696 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc1909a6-077b-4335-b783-5ea0f5ac8788 CLINVAR:1676696 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25f05063-2a04-442c-ba1d-4cb282bce35b CLINVAR:36817 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bd73d43-0e60-4e03-b7d0-1c5a9146f124 CLINVAR:36817 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da7e7536-6d2f-4a75-838e-18000713234f CLINVAR:1676697 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4546902f-0e50-4715-8c41-ff0339989182 CLINVAR:1676697 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7a2b8ba-aa61-4753-852f-2074bd3e6303 CLINVAR:447486 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc0d8c9f-ac04-48c5-a1ef-54da36f2a4fd CLINVAR:447486 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80a77bc6-4a97-483c-9c5c-b2caf012f8dd CAID:CA913203553 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3edc9b71-fd6d-451b-924c-3881c176d3ba CAID:CA913203553 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ef7eac5-53da-40b9-88d3-c2c059c69b7f CLINVAR:36819 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ba30bed-ee5b-4671-b681-91ae6db71c43 CLINVAR:36819 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8719a25-1c34-4b40-9423-48c9b1196bd3 CLINVAR:307458 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1f07c77-88cb-4ac9-856c-d59ed9f066e8 CLINVAR:307458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c34e193-6afe-4690-b17c-6465b541a95c CLINVAR:1676700 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 349631c1-a6ef-48c9-8a9e-1fa91e359a9a CLINVAR:1676700 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 710e34ef-285a-47b0-9708-21b11ad58e3f CLINVAR:1676701 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1526ccf-2b60-4fb1-8210-c1e93c12c606 CLINVAR:1676701 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47b1397c-17d7-42b9-9aed-607a9d157dea CLINVAR:14942 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a42d6e1-7b69-4267-89cf-22c93de2a76f CLINVAR:14942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40c368df-7bbb-4b8c-88a8-59cc0565d0f4 CLINVAR:1676702 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fccb4357-88f2-49d8-8fc7-3af1b4d60cbb CLINVAR:1676702 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5378da87-1089-4bce-b40a-3a4c56822673 CLINVAR:36820 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c87b2d7a-4838-4d76-832c-1f7de28eece7 CLINVAR:36820 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a349634-6b4d-4548-ba67-dde3ad5b0352 CLINVAR:1676703 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eac65321-5471-4501-a894-2f65d51f5d1c CLINVAR:1676703 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 912429fb-f466-43bc-a3b0-561985117405 CLINVAR:447489 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 207e21fb-f079-4e54-aaec-f4e16fec69ab CLINVAR:447489 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 122fd667-f8ee-44e7-9bbc-b7964992fec8 CLINVAR:36821 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6793f7b2-7735-4626-a8cb-c0aad46b532c CLINVAR:36821 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7db4b1f-4355-4c1b-a771-06485fcb0bf2 CLINVAR:1676704 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 576c1014-3199-40f6-a291-8bcd6a0e3b5f CLINVAR:1676704 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9629267c-032b-482a-bc53-239b675eb05c CLINVAR:447490 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f50e9bc7-83b5-4859-ae78-77b8fcc04b2a CLINVAR:447490 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a71258ec-ff7a-4ecf-af0b-5a9744f4445f CLINVAR:1317072 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27e26def-73e8-4635-83e0-1f429a58b489 CLINVAR:1317072 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7430d20c-6cbb-444f-ab87-75c469b9cae1 CLINVAR:377965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7e5814e-b92b-4a68-8470-486f17f32f74 CLINVAR:377965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fae6f4a-4b81-4d3f-8aa7-03e2860a967b CLINVAR:372380 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a03fbb3-da45-453a-b2e1-0e0a1463c939 CLINVAR:372380 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71b81811-83a4-46a0-a416-6d6abf2c7e11 CLINVAR:449035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31db3026-ca48-4807-afd0-fcdbf4f3bc76 CLINVAR:449035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a6f0a10-b2c0-4a4a-b3ed-b70814f4adaa CLINVAR:36824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a6151a8-0c26-4ae7-82cb-c28626b3b572 CLINVAR:36824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 265f878c-831a-4ff0-b4fa-645108505c84 CLINVAR:381588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82a5d1e9-54f9-4638-8150-a39440dfd08f CLINVAR:381588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab90106f-e5b9-435c-8e2d-07dd958b2949 CAID:CA386964227 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fae35ff9-8a6d-483f-9981-08c1fac46ce8 CAID:CA386964227 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f5feceb-b6ac-4896-ace6-0522dc04d914 CLINVAR:1338381 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d16dcbb-8582-4c80-973c-0dea56583d81 CLINVAR:1338381 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8dc5558-4b6b-42ca-9ff7-5b4b4b87480b CLINVAR:129235 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c2015745-4c72-4334-8321-50b0477b6855 CLINVAR:129235 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecfc0801-2432-476b-8533-a0f21ed0ff25 CLINVAR:393434 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5481711-efcb-45f4-bcde-34dde45fd0c4 CLINVAR:393434 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e6f3e93-80a3-4e17-9676-b871faadb804 CLINVAR:36825 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3cb9945f-ccc7-4f26-aa39-e3030015680c CLINVAR:36825 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f60f64-e4ab-4a65-a9d3-2b55f5f08109 CLINVAR:435428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 099217a4-13a3-49fd-be3f-1d53fff34e7c CLINVAR:435428 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ff6d82-9839-4082-b339-168ba1df7c7f CLINVAR:379904 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29fa4ba6-63cf-4398-8904-9229fb678351 CLINVAR:379904 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 991849fc-0a3d-4424-99c9-e61310ccbbfa CAID:CA386965177 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e973ce83-1377-4981-90e1-2bb224f267e4 CAID:CA386965177 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 842feca0-118d-4a59-a3a3-620d559f7f48 CLINVAR:393456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb48de56-eedf-435c-a2a2-fb1307a60164 CLINVAR:393456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39f53e03-4a51-4eb3-912a-cd153b716da0 CAID:CA913203569 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b57f7312-4856-4e2b-872f-4a8eb1dce185 CAID:CA913203569 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4635f223-c7ff-43ec-908b-3ba32ed789ec CLINVAR:447497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0e6a268-aa21-471b-98be-c23911ca1d54 CLINVAR:447497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb525874-18c0-4395-89b8-7e4a9ec55c69 CLINVAR:1676710 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1180f303-113c-4b0d-8735-15a1f8033534 CLINVAR:1676710 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59112c29-13af-4d46-8432-63469852ef0d CLINVAR:1676711 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75bea8ce-9c8d-490b-ae05-054d154c57e4 CLINVAR:1676711 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1f120fa-5b8e-4d26-8278-e364a7b108a9 CLINVAR:452526 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69d47683-9334-4936-891b-f75254fd3ac5 CLINVAR:452526 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d3144ad-5507-4169-a7d0-5d8b17c2a940 CLINVAR:36828 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 249c3804-a7f1-4e67-a02e-113bf6794be6 CLINVAR:36828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b88efcc-52d0-492b-b5df-c48387fdca06 CLINVAR:1676713 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85fbca99-9553-439a-a1fb-c49eb9a83cba CLINVAR:1676713 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5f53f29-7a39-462b-b690-291a52290cd5 CLINVAR:838654 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76e15b50-6979-4bf5-9c79-4e5c8985ad18 CLINVAR:838654 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3212ae2-5c4e-4a7e-bd67-7d9295a8f091 CLINVAR:203575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4655c97f-5831-45fd-82d7-d79311d2b791 CLINVAR:203575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8d50a1a-d99f-48a8-a8c2-cb5933546618 CLINVAR:1676714 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb794eb9-f73e-4bbe-8273-0deff121a5d0 CLINVAR:1676714 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e37fa66-7308-4693-81cf-45ce3a3b236b CLINVAR:1526008 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af4376a6-750b-4f23-b735-b77feaa44829 CLINVAR:1526008 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4957b82-f088-4d32-9673-8fde92331678 CAID:CA915940438 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c9bac30-f004-435a-906c-9a62d621bbc5 CAID:CA915940438 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e765af01-78bc-4874-8179-5a6ff508decf CLINVAR:1676716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7632e902-625d-43d6-8944-4325fa6b70b1 CLINVAR:1676716 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ae36701-ee2f-48bd-8e4f-0615510cc563 CLINVAR:447498 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b61ec8ab-9e67-4694-8a76-cbd27dd6d695 CLINVAR:447498 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 624aff22-9b2e-40d1-b4f6-fdf3cf84b4d2 CLINVAR:1676717 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 039d4076-c8f7-487a-b051-cc9f7964bf1d CLINVAR:1676717 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f51709a5-008e-423b-98af-eb7783c916b2 CLINVAR:998237 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c960641-5729-4a8c-8150-d8d3c08731da CLINVAR:998237 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e46ef9c-9db0-4ef7-a10d-becfa7f904fb CLINVAR:265436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c908492f-426e-4cf4-b1cf-6bc36e413ea0 CLINVAR:265436 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a4dad33-9cde-43ce-9f4d-0712f0a1f978 CLINVAR:562367 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b4d464e-3327-4bad-b154-06a9e3a83bc4 CLINVAR:562367 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 342b9b4d-a9b7-43ae-be80-ce3a4eb915e4 CLINVAR:379138 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae9a7d77-4011-4b19-858f-85a01986e920 CLINVAR:379138 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74807b4f-e8b3-4c9a-9e4e-c9a7c4e2af73 CAID:CA386966158 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77ae1203-9aec-4a04-a3e5-8a600ba40547 CAID:CA386966158 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 157c3bd4-73b1-4918-be11-d0c39a5b2f77 CLINVAR:36830 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e873c73-af37-45c0-aefc-a4167e046848 CLINVAR:36830 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f156e5c3-83e1-44df-81b4-5701fbd94b2e CLINVAR:1338730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c7d53e6-4944-4833-8e88-43a57b86b878 CLINVAR:1338730 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6932398-99ed-4594-9feb-4bef1d012679 CLINVAR:265193 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef88788f-3517-47cc-a27f-73d2272ac2cc CLINVAR:265193 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87ad8d77-03e0-47dc-996e-937c2e8282d5 CLINVAR:447504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5c36efd-1914-4e73-88b6-97fc66512993 CLINVAR:447504 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8414766f-c769-4599-aa11-7737c7b5c79e CAID:CA916079828 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d743f6d1-916f-418a-8b81-8d926f22003e CAID:CA916079828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e3d367a-fd4c-45df-9bbc-361a89448c8a CLINVAR:1315612 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb00b9b5-ebf3-41f5-ae2f-da9a3d4f43c0 CLINVAR:1315612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b2c6d9-d4c7-4a35-8ac5-3c079edc93b0 CLINVAR:1676721 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be084d47-b7a6-46b3-aa2e-e6af3f546e3a CLINVAR:1676721 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eba89c6-ad1e-439b-b493-ecf423d28431 CLINVAR:972753 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8409f19-4e1f-489f-bfaf-61add01ff3d9 CLINVAR:972753 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f8c640-af79-42a5-8fad-34db016f13dc CLINVAR:14927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab189ca0-0713-4f91-befe-56c138d9837a CLINVAR:14927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71e81258-6173-4138-bb71-308b04f63967 CLINVAR:447503 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eef2d234-e91a-4d02-8ae0-07a0e3fc4694 CLINVAR:447503 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 825e74bf-70cf-4c26-98bd-15823b5322e9 CAID:CA386966358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57853651-9275-48ad-9217-84e8fefb5bbf CAID:CA386966358 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e6dbb32-d812-40dc-b266-b8584d536649 CLINVAR:449403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f531a536-f174-493b-bf8c-117a607be003 CLINVAR:449403 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 965caa04-1f2d-4bc0-ad21-fc9cda026025 CLINVAR:447501 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e205fff3-da17-4602-9a47-6ba2c7af51c7 CLINVAR:447501 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee28bbdf-1a0e-42c0-8937-b545468a3e93 CLINVAR:447494 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 856c2e29-e42e-4bda-8a62-e3d14df5f632 CLINVAR:447494 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38c6f99d-737d-41bb-b8f5-f07ce070ea97 CLINVAR:1687075 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23730fa3-f270-49e4-9c23-9869c7fed902 CLINVAR:1687075 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 472a499a-75ab-47c0-9932-5078298f5408 CAID:CA916084342 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 512b7837-2769-4db3-9c76-ed6a54e66164 CAID:CA916084342 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1451bd4e-88d4-4bf2-b2d6-a3dc15020344 CLINVAR:102631 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5af78203-0bb8-429b-a458-e39ebaff5b33 CLINVAR:102631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03f24a89-f84c-4585-adc9-d1d6f8c2a8aa CLINVAR:102599 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a050cdfa-ed1b-4561-b66a-c16507f1abcd CLINVAR:102599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd95b8d7-6fd2-493d-8804-9ce43cda9ea5 CLINVAR:102863 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcfaf913-e5ed-4eec-b95f-35590c0abbe1 CLINVAR:102863 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6224ca9-6453-4496-9aab-3b167281f5be CLINVAR:102836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4c6d638-e926-4378-9718-7e4bdbeacf8d CLINVAR:102836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84a297d3-28f6-40d8-b745-ae7639b6ef86 CAID:CA16020858 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d19ff634-2ddd-417b-8d14-df0adcef88d5 CAID:CA16020858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a98f173-6a4e-4b69-b968-175d06018460 CLINVAR:102835 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfad3305-b6f9-4579-9dfd-8a0d769e4d86 CLINVAR:102835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 280c3da1-8cde-4364-b865-bfb9c450645e CLINVAR:102651 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5543e45-fac2-4050-959a-849d9ed39a83 CLINVAR:102651 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e9013ac-0ee4-4f12-a332-8397d57c24ac CLINVAR:624 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87fed6c1-7844-4b19-8b7c-299877c1e176 CLINVAR:624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ac0ec4b-43c3-4f2e-910f-1ea75e16b1c9 CAID:CA16020834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e6937b8-3a13-4f05-9060-940203cf400e CAID:CA16020834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef624b7a-ec2f-4bbf-bed8-bbca97be78e9 CAID:CA16020917 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0fbde6d-2062-4b9d-9de4-df6078c22302 CAID:CA16020917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9571d6eb-e4d0-42e0-9b0e-652b0b2fd10e CLINVAR:430837 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 134d7630-f34a-4e17-a02c-884ed18cc94a CLINVAR:430837 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ab1799d-9bf4-4eba-8d16-54195701b543 CLINVAR:134513 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c65200eb-b2ca-4a64-a4c9-a7a22e166418 CLINVAR:134513 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8349430-a590-41a7-b244-06dcdb086b7a CLINVAR:447484 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1753f988-c5f1-40f2-99b1-d4001bb82773 CLINVAR:447484 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cef06791-2769-4114-983f-6ac1aa192f8a CLINVAR:1687067 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39569142-dca7-4019-84c6-6f9a1a43acce CLINVAR:1687067 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e905e98-611b-4237-8f7e-32cb4096aa79 CLINVAR:1687068 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ca11f00-dc87-4459-8ffa-7111ce745c42 CLINVAR:1687068 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c2ea4db-9a50-46cb-9915-bebd344c2e8e CLINVAR:1687074 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84ce6548-6ab4-42d4-bfaf-ef898cd6c582 CLINVAR:1687074 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f7f4b32-158b-4378-aed7-186a2f385c66 CLINVAR:1687070 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74ede909-4c76-4d25-be4c-76bde003e95c CLINVAR:1687070 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a81d151-d737-4725-a114-401fbed18114 CLINVAR:1687071 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87074857-e35a-4219-bc49-d25884e629d3 CLINVAR:1687071 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f89610e-ab8b-4501-ae19-26d2e1022e1f CLINVAR:1687072 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bb86fa3-a86b-4dcf-9db0-3d61d500540a CLINVAR:1687072 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52cef384-4f1f-4192-b718-be534dc36f09 CAID:CA386958695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f40bd66-47d2-423e-9842-f4725da15599 CAID:CA386958695 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dae74a54-7566-4f31-9242-3882969ec519 CLINVAR:447500 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 761478df-2b61-44b3-92d9-27523aea4432 CLINVAR:447500 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8636422c-6ae7-4a13-94d5-f04fab5c8fee CLINVAR:14945 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 435a5467-33c7-4aa0-a8b1-7af99c81739b CLINVAR:14945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07d23c65-6e83-446a-8ec2-78b1608b3334 CLINVAR:1687076 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2e432cb-11be-4442-ab11-952e717269ff CLINVAR:1687076 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d79499bc-af98-4ef6-9470-c1d02682e029 CLINVAR:252220 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f106f89-e58c-45c3-bb6f-86769ca1eaac CLINVAR:252220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c296d089-6d6e-4bab-a4b8-b17f997c500d CLINVAR:252221 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5603ed53-766b-4207-9058-953a842ea830 CLINVAR:252221 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1e8163d-75e9-4f36-b435-477feb888c2b CLINVAR:36823 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 725d9179-b27a-4510-b79b-f4679b5dc765 CLINVAR:36823 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7596cbe0-dc90-49cf-a5ed-5f81b2828306 CLINVAR:134509 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1197ac9-bc21-47d8-8641-6182354fa795 CLINVAR:134509 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c8113a6-9cdf-4695-8608-3ab3cf01a510 CLINVAR:918071 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9daeacc-db95-462b-a33d-11422870311e CLINVAR:918071 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4af8ccf3-53ba-470e-bb3c-f055874ec6a5 CLINVAR:843407 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c13bccb-6c99-4de6-9585-4ee6cbd828f5 CLINVAR:843407 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d552f951-6f1f-4da3-8a39-d983fd9c75c0 CLINVAR:251435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4554e0d-763f-4e70-b9f9-8098e6aafd90 CLINVAR:251435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fa47456-b2f8-4aa4-91fe-d0516f6cd188 CLINVAR:226351 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80b45f9b-ce97-431b-aefa-c4cbf0028641 CLINVAR:226351 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70e5ae72-282c-4f90-804d-95e82974a60c CLINVAR:226352 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85514891-bebe-410d-9d1e-522493b3c091 CLINVAR:226352 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec84eee9-e531-4573-9d66-e08421dc000b CLINVAR:250966 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 373832d7-3901-474e-aade-16283fb039f9 CLINVAR:250966 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8f08792-753c-45c6-837b-f2e9031306e5 CLINVAR:250967 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd256592-a0fe-4171-b83e-1c2725d706ba CLINVAR:250967 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a7b8917-c4c2-4fa8-9342-ccbfad1a084f CLINVAR:441174 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3eeca9b-c789-4b1a-9079-1631f9046303 CLINVAR:441174 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e46f5284-927f-428d-a211-c5b78ac46272 CLINVAR:440536 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10fb09ff-95b3-4416-a6ac-447b753ea66c CLINVAR:440536 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863b9364-108b-4469-9d2e-6218211dffdc CLINVAR:250969 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96d65d98-9587-4d72-a37b-3d2252eca1e9 CLINVAR:250969 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d86e0f5a-44d0-48ab-843f-0af09a06524a CLINVAR:3739 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21e67a7a-9752-46d7-8056-4dd60a45cca3 CLINVAR:3739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b52df38d-17eb-4ff7-800e-dbde28e8b81f CLINVAR:1687077 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b5c2e1b-cffc-4221-a767-df297f8aa951 CLINVAR:1687077 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c909cf-7b75-43a4-87b7-0f22705dc8d5 CLINVAR:14935 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4ade2e9-f8e9-4d0d-996b-cfff724843f8 CLINVAR:14935 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb225f13-3227-401f-817e-654ab1393173 CLINVAR:920048 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6d1209e-5cdb-421c-8279-3526e881f25a CLINVAR:920048 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec796f08-ddc8-47a4-b269-ddb27584a8bf CLINVAR:251580 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4852b16d-294a-4ed8-a242-7c1d89153afc CLINVAR:251580 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f7b1e1-8d95-436c-ae56-60c2d4ef1637 CLINVAR:440663 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ebd3a29-1ba1-4d99-8fe3-38cc945e43bb CLINVAR:440663 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9069d4fd-c21d-4de9-b3cb-7f265e1a5c8e CLINVAR:252084 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92e56ee9-722b-484b-b7ac-c11237f44aaf CLINVAR:252084 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3d7551b-87ee-412d-a04d-698eeff0d072 CLINVAR:252085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31ccd2df-c8e6-48dc-adb5-17d12cfa1886 CLINVAR:252085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5cd35be-d22c-4a23-a6cb-58d4be0878c6 CLINVAR:250957 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9f50ca0-ea07-4f5f-a2f1-72a0d1c0d59b CLINVAR:250957 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4da87438-5568-47e7-ae73-2e2d02b4003e CLINVAR:251508 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d53aae58-a635-4f02-8557-3b6401705310 CLINVAR:251508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4f5ecc0-cfea-4448-9f02-b592704c14fd CLINVAR:251507 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d0f21b9-2174-4d13-b5a0-b8c8452b00c8 CLINVAR:251507 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d8d40a-8ce1-4706-8d40-7b84ddedd3a7 CLINVAR:36459 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c30f4a7d-82ee-4584-8fdf-1d1cda3e68a0 CLINVAR:36459 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f365238-1e02-4008-8e1d-3b72b47bbcd3 CLINVAR:252224 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10eaf3fd-e3cc-4477-9cb4-52caedbdb294 CLINVAR:252224 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07797578-eed5-49a7-8cd2-b74348286650 CLINVAR:250933 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c9a266f-d8de-4edf-aab9-d331bf9ea6db CLINVAR:250933 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44465b6e-9606-4f9c-8d57-c5169d3cc481 CLINVAR:251611 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce6a591c-0b04-45f7-8df2-8e76581ee053 CLINVAR:251611 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d8c413d-cf7c-41e0-8e33-5207c80f324a CLINVAR:226342 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ccd371a-3a57-4203-8124-2e20892e6f6f CLINVAR:226342 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23d4f5b6-8972-41b0-95a3-8bfd9abd7b26 CLINVAR:440627 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6883e7a4-9d34-4860-b769-6aa58ea6b2e1 CLINVAR:440627 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09379da9-98c6-4aae-943a-43f2cbdb4772 CLINVAR:251693 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98747f10-13d4-4233-aa69-8417c92da437 CLINVAR:251693 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3053d312-1019-4d3d-a87a-9a994ce682d8 CAID:CA397722480 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16c4401b-2c02-48d1-ade4-295cae317f26 CAID:CA397722480 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1bc0e40-4076-4575-b693-6b99f348bab9 CLINVAR:648624 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0cec95a6-340b-46bf-be35-0757fd69aa15 CLINVAR:648624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56b738c7-1f16-4b48-a029-e136b0744712 CLINVAR:181279 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c49aeaa-e4d6-40a4-b40a-c5d74d798fda CLINVAR:181279 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48e58315-a7ce-4c32-befa-9d031bdb52e3 CLINVAR:181390 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b21e2ab-42fe-418c-8f6e-11a63d3afbc2 CLINVAR:181390 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07b8c8b2-5dd5-47c4-a334-57a7d2730a2e CLINVAR:43095 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3df7a3e-57a6-4ef5-9c8d-e8249f06db26 CLINVAR:43095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a805c26-891c-4f4f-baee-2a7a8baa6be7 CLINVAR:953854 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a5298cc-94bd-419d-aeb4-a452a756fa5c CLINVAR:953854 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f07135e-903d-4a67-8f1b-8a5828386fd5 CLINVAR:932736 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a1d0ea0-b7c5-432d-8458-5d634c80f80c CLINVAR:932736 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6175a16f-3447-4691-84ee-63729a44fa56 CLINVAR:250970 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fb3df1b-52b1-4d9b-b5d9-9a6ca273c67f CLINVAR:250970 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75068bd0-45b9-4553-b914-01a38c2b2ada CLINVAR:251309 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 028242ff-1a00-49b1-9111-38c07fafd96b CLINVAR:251309 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f003afa2-d66e-4db5-a179-edbe480f6208 CLINVAR:3683 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d9bc49f-bb95-4cad-8bd2-e59b16a7d288 CLINVAR:3683 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b60a653e-35e8-450f-a859-59512828c254 CLINVAR:3691 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a2a86dc-b58a-4e6b-aed5-122d2a31691f CLINVAR:3691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb5cc49b-8b55-4748-b2fc-c513c68a44e6 CLINVAR:226333 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a950002-7f84-4286-ab4e-adb60fe6df78 CLINVAR:226333 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a10f2179-627a-40b5-967f-c2ba7c4e14bf CLINVAR:251421 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0418d9a5-088c-4487-b93c-f94fa23b4060 CLINVAR:251421 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc951a61-5903-41d9-a655-9663425295d3 CLINVAR:440613 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e677f249-8ca1-4142-b6fb-e9b175a67252 CLINVAR:440613 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 061b11b2-2651-4d16-963a-3b0eeb925fc9 CAID:CA386972260 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20b52c41-8164-49b5-ab27-afa1726638ef CAID:CA386972260 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e5c091a-e259-4549-8876-8bb1406fbdb5 CLINVAR:256597 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7989c76d-f788-44c8-9def-4ff9433ddc81 CLINVAR:256597 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1843acda-4895-40fd-894f-94a6a8caeea2 CLINVAR:36829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfff6bf6-a1ef-4a8f-a8cd-3dbcafe15d97 CLINVAR:36829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02d2074c-a2e6-4cb9-876c-6662d92527ec CLINVAR:1338571 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bad0392-038f-485a-8aae-ec288675c98e CLINVAR:1338571 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed33fb57-71f9-418c-8de9-051690147928 CLINVAR:36832 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 546267b4-3c43-421b-9549-96aa5f78b5fd CLINVAR:36832 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 636c0aa8-ead6-4ff6-9e32-52e2c2a1c4d8 CAID:CA386970411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39405130-678b-4c9a-9363-617f1b568f16 CAID:CA386970411 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3a7b45-8901-4824-a90b-a1648867e4e6 CLINVAR:36803 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51f44ee0-1866-4538-aa61-d3715768f87d CLINVAR:36803 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ac6f1d2-3d55-46d6-bc34-946cdf0caf5d CLINVAR:256598 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1344c1da-c5c0-4444-b5a6-c772af2fdeca CLINVAR:256598 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6efe6080-b650-4503-8c5c-f2147470dd95 CAID:CA2573051033 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bc65298-a235-4e43-a4eb-a9dfa32c791e CAID:CA2573051033 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f583e77-fdcc-41f9-8d45-8c0d6f1755d7 CLINVAR:307462 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a076305-75ba-41ba-a98d-6ec5764cee69 CLINVAR:307462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a02f7d25-a2ec-446a-9706-9729b5d74f10 CLINVAR:36812 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5ab1c75-32b8-4654-82d7-fd886b5849e9 CLINVAR:36812 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b1b0b0c-a230-4d31-9760-2e313cd61a03 CLINVAR:1687082 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 170abd5b-2c4c-48d1-9955-fc299a335ef4 CLINVAR:1687082 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e7a03f7-d80e-4294-89f3-80026f4fa69d CLINVAR:1687083 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e097d2de-c34f-47cf-bda7-25f1745a673b CLINVAR:1687083 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75064f1d-1cde-4ec1-8184-5fa1899f5cb8 CLINVAR:438709 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9cd16667-7493-43b4-903e-8a681bda4aaf CLINVAR:438709 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5751756-4e04-4f26-a87f-21579c86d9c9 CLINVAR:1687084 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 566d7487-0eef-4664-a3de-4480ada64780 CLINVAR:1687084 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0706bc85-0a58-4548-8014-589c66fb741c CLINVAR:134507 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6ca2a89-ebe0-4821-a202-b77a75b3d116 CLINVAR:134507 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea600f0-d2f5-4afd-b66e-f0151f5d6996 CLINVAR:1687085 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e66f2efd-ab12-4f1c-9af3-c5a1eeea0c2d CLINVAR:1687085 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db3c2d48-1fc9-44e1-9d25-2e5c0f4c83ad CAID:CA2573051045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8aaa7a74-6733-4a61-9c60-354c11c3b755 CAID:CA2573051045 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e700e18b-8f82-42e3-902e-d7a860549af7 CLINVAR:1687087 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c838f72f-23e2-4c01-adeb-54a38a3b22fe CLINVAR:1687087 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1023d765-bac6-4cbd-8d84-7462b6744bfb CLINVAR:307474 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92ed857c-e678-4aec-8d5d-c9250d6671b3 CLINVAR:307474 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2011c2c2-bd9f-459a-b221-3ef027bdd34f CLINVAR:376917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a96d432f-ea6e-480e-ad3c-3644c778269b CLINVAR:376917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c50c4c6-59d8-4d75-851c-b7825229aade CLINVAR:371068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f4f3d43-afb4-4666-b4ec-a9145cec472d CLINVAR:371068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a7edb17-e751-4acb-bb63-85ffa460e429 CLINVAR:373614 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1892b03d-a2d8-4b01-9de6-91b8a4fe6a63 CLINVAR:373614 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72b9a7cf-6017-4bec-b9e9-0160562838c6 CLINVAR:929167 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab17bfc1-df98-451f-9ec9-c0e4d65935c2 CLINVAR:929167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bd430aa-50c2-43ec-90bd-1361efe79791 CLINVAR:4025 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f679839-de3e-4ccc-97a7-bcb17d8bf6e8 CLINVAR:4025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb52c1e7-5efb-41d9-bf5d-819efb27d478 CLINVAR:1693548 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c8d1c5b-e34f-4910-a091-a9685985f972 CLINVAR:1693548 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 929f4912-ed2c-48aa-ac3b-125ddb748555 CLINVAR:180144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed93afed-af14-43f1-9987-c35daa783f25 CLINVAR:180144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03ae3d30-80f7-477f-bfb7-fee7b47716b0 CLINVAR:430167 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6e6567b-293d-4142-af93-de0178379157 CLINVAR:430167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86d46ce0-e4b2-4a3d-94f3-d7cfbccc0247 CLINVAR:307467 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efce1059-8606-48f1-a7b5-1b2135fb61fb CLINVAR:307467 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f69dcfc8-6e27-4d0a-a427-bdb50f1fdc2c CLINVAR:48256 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97dab689-457f-423d-bd8a-0ff8f287dfc8 CLINVAR:48256 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae2f814b-3ca6-466c-b2f3-b3dfc744bd7d CLINVAR:6137 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71862464-c8eb-4704-9825-daa282f38bc7 CLINVAR:6137 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a0e8b20-ce66-42f3-a453-c302849ff336 CLINVAR:21831 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8071991f-f9eb-4a53-ae45-dc6209201c52 CLINVAR:21831 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d5c8872-e077-45aa-a22d-e0e3de0d79ca CLINVAR:48253 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 247aec62-af93-48e3-86cd-63cb79aadd4f CLINVAR:48253 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f5bdd81-77fc-4fa6-a54f-5b6d382c8764 CLINVAR:897955 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87c80c73-fefb-4b75-bd16-707d1ea6ccc8 CLINVAR:897955 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16b7d5f7-3db6-496c-b6a2-ccddddc2c8dd CLINVAR:48235 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae3814b4-676d-4370-9439-4d004c0f1bae CLINVAR:48235 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0ab5338-4a38-49bf-87e9-5f8643efd3ea CLINVAR:500061 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a471b402-4f0a-40f4-ad35-3b54c8e68652 CLINVAR:500061 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f3732e8-1684-4b68-a59a-a74255f3e5de CLINVAR:666995 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d77b102-916a-4df2-9bd8-8ee8e4423ba1 CLINVAR:666995 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92e04532-bdf4-4321-a087-8438643224fc CLINVAR:505185 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f00317ab-5899-4723-95d9-02d396232081 CLINVAR:505185 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 249457bb-1a47-45b4-a7a1-308716bc2501 CLINVAR:930033 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e5995b0-10ef-45e0-938f-9108b3508852 CLINVAR:930033 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cb4de34-6256-42f5-91ff-da5693c71d53 CLINVAR:632271 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd7a5270-b0ce-4a83-9f46-63745aa4eb77 CLINVAR:632271 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91cfbc4d-9ba4-48aa-8c52-1b408cf02c15 CLINVAR:623347 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc058b8b-309c-480b-a3a7-7cd13fc86aa5 CLINVAR:623347 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d458bb-75a1-4bad-8d20-c8d1bf7ed6a4 CLINVAR:449526 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a44b32cb-3fb7-42b9-9156-007674ae20c8 CLINVAR:449526 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 204828f8-d3ed-4a7f-995f-8b75ebb794d7 CLINVAR:6950 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 152b0d71-bebc-4384-ab72-ec93c12851f7 CLINVAR:6950 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee24d73e-993e-4ec3-904e-be29a440cea5 CLINVAR:1693547 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4be4ed56-e9b1-440a-9bf0-a790245b6592 CLINVAR:1693547 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e972628-9642-44f4-9d1f-15eecd620f55 CAID:CA658795287 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe6f3984-0090-41d9-8ccd-b647a101aa2d CAID:CA658795287 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b9fb8b5-56c5-4663-a149-e31063538485 CLINVAR:370277 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f1a41df-eea4-435e-9d0d-6810eb5137a9 CLINVAR:370277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2785449e-c701-4559-8efe-057587ac6e91 CLINVAR:1686781 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a4a75db-d1b4-4a24-82cf-8b4c96ccd0cf CLINVAR:1686781 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c53a2b2-d441-4aae-881b-7b672cbfbf22 CLINVAR:1686788 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a655ead8-e883-4002-a70d-8590b3137658 CLINVAR:1686788 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 121179ee-cc51-413a-b251-b66080c419f1 CLINVAR:7952 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c5118f7-debc-4b11-9826-4543b23de72f CLINVAR:7952 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7d1c12f-9867-4e73-a952-d001fcdc7c17 CLINVAR:1686795 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c086554e-f626-42a8-a48c-a70c19bb29c6 CLINVAR:1686795 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4d11816-a7a6-4b06-84e4-388a8c672950 CLINVAR:1686796 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 395fc423-bd60-490b-a790-817d53141392 CLINVAR:1686796 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435cee11-0ff1-4b04-b98f-1959da4505ad CLINVAR:1686797 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb985e72-a2aa-4dff-a9ad-4bc54449c510 CLINVAR:1686797 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a0dc630-7a31-4dcd-a85e-69215f35e529 CLINVAR:7954 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f1fc503-baee-4ac9-a97f-36e4b4db872b CLINVAR:7954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf841ae8-1451-4f39-a386-4ccbd0d40758 CLINVAR:1686782 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ddbc3b6-9d47-40e7-a823-011d8f97436e CLINVAR:1686782 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cff9edc-a5d3-434f-ada9-54b71077c6a3 CLINVAR:1686783 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc36e888-378a-41f7-b020-7b0b9913a096 CLINVAR:1686783 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5953548-f803-4b2a-a4ae-f14974fc1008 CLINVAR:7956 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d554487b-70c0-4294-bbcf-20f71a6ec865 CLINVAR:7956 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfe35408-4b9c-43bc-b8c2-97584ee0a583 CLINVAR:1686784 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71d24c09-5302-4692-9fb2-786036170d8c CLINVAR:1686784 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81e5842d-a98c-4210-9085-7c84b88ed80b CLINVAR:30205 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d56c6cf-a001-49ec-b58b-e1a69c84fe3a CLINVAR:30205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2caf3c0-e082-4e7b-9433-8a2cb28e6e91 CLINVAR:7950 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88b5afc0-b076-4b47-bfbd-18236eec6add CLINVAR:7950 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a9794e9-c6ae-440a-9f05-cc7750035c8e CLINVAR:7951 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38a03ea9-fe64-43e0-adb8-84027f3b3375 CLINVAR:7951 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbb624d8-a267-4fb8-a380-15c9795016d5 CLINVAR:1686785 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen acba96dc-4630-4458-8ed9-fbc543c87c8f CLINVAR:1686785 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b76ee58-3ccb-485e-a26b-4d5c8fdbd86b CLINVAR:1686786 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69a2b7d1-b9c0-486e-b14e-273d4745f6ca CLINVAR:1686786 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adaf2183-ab4b-46bb-8213-34c878a3ae35 CLINVAR:1686787 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fe40ea1-f23b-44bf-b6e1-5ff9157a0f15 CLINVAR:1686787 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 489145a2-6256-47ba-ae5c-fc0bac0775ff CLINVAR:1686789 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53c4ee8a-ea66-4051-a71a-ee394c531e8d CLINVAR:1686789 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 245a85a9-5337-4a29-8014-93c679d4ce46 CLINVAR:1686790 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13b45504-ee34-4bb1-9d65-6efb9181d552 CLINVAR:1686790 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c7da2cb-90b3-4499-b8bd-bdcbf50a485f CLINVAR:1686791 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce336343-9f4d-471c-ab66-7b26b8a9f17b CLINVAR:1686791 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f63a7514-2c49-443f-b41d-520bcb9ac20d CLINVAR:1686792 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 205f675f-d67e-40d0-a393-2093f2ad4133 CLINVAR:1686792 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b23c7c01-8905-4084-ac25-f2c53d321506 CLINVAR:1686793 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5720280-a1a7-4254-91be-854182cd7ae8 CLINVAR:1686793 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce1bbedf-3810-42fb-a5b6-2ee17bfda5b0 CLINVAR:1686794 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c32b74d-24f2-42bc-9d11-a40c1397250b CLINVAR:1686794 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4291acc6-527c-42da-aae8-0cdd44575b2f CLINVAR:917405 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2aaf345-89a9-44ed-9d64-2dfaeb22b45e CLINVAR:917405 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6a6d52f-26cd-4ecd-b2bd-22e68ec818af CLINVAR:871739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7416a3dc-0434-4ae1-8c96-f78d66742925 CLINVAR:871739 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef95ae95-bb94-41c1-aba9-44de6f359e8c CLINVAR:1693221 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92e8d902-12a3-4354-aebd-47e642a7566c CLINVAR:1693221 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05d8bc66-e86e-45b1-8c6f-dbf5e7876175 CLINVAR:420102 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1b51be9-134a-40be-8d08-c032b7546cfe CLINVAR:420102 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01d59e8c-6df7-4561-8d70-80cebfaeee70 CLINVAR:419722 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f28d498a-b32c-4620-8f5f-b560da0a65b5 CLINVAR:419722 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 957cfbfe-9e0e-411b-8f3e-0fb486dab9fd CLINVAR:1693551 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 518ec79b-b6d6-47cb-8c4e-ad2e312a7a48 CLINVAR:1693551 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c87f8c-1ac0-4287-9879-5bafb9b24975 CLINVAR:1072906 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07d45c7e-8a44-4c3e-9b77-d25e48c26b5d CLINVAR:1072906 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7398ca71-103e-45b5-88f5-94feb6ea20e6 CLINVAR:371305 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33228dd9-886c-4568-a2b9-473b810ec2d9 CLINVAR:371305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b18bb7b1-4219-4d39-876a-df6d5cdc266a CLINVAR:403712 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b74f3f99-68bc-4c3a-9235-bf8fc4f4b576 CLINVAR:403712 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1f0fcb4-c207-4a81-840b-3ad9b2fab8f6 CAID:CA658795264 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9e026d0-29d2-47dd-919e-62b028c9b206 CAID:CA658795264 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eff4d2e4-229c-485b-8af5-6e69d6cd4361 CLINVAR:934787 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c9d0249-2230-49bd-b087-49e8f9c0e590 CLINVAR:934787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 019607fe-9e43-4279-b67f-e31cebada1e6 CLINVAR:102819 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 389075a0-31de-4627-972a-08bfde36459c CLINVAR:102819 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f576f864-a913-4d27-9e48-5c7823207e30 CLINVAR:280984 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 469e3f37-db53-4e47-9eff-ff0548f41bd1 CLINVAR:280984 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4f94ece-ea30-4281-a58f-0e3dc3b3d029 CAID:CA386954977 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 255d1421-c4b7-4eae-bf95-b3813d198460 CAID:CA386954977 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e87b988c-9ae8-4cda-9bce-be3610b483c7 CLINVAR:1338520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 347da781-33ac-465e-b682-5d97a4fd9b5f CLINVAR:1338520 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 408f5d85-cf18-4f53-bbb3-a4ed6142d44d CAID:CA386954965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f246774e-71d1-463e-9fcb-1f0a4e5981b8 CAID:CA386954965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76980f45-5723-420a-8f76-550aa990f596 CLINVAR:447491 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac74e248-b4f4-436b-a5ab-f6053fa22350 CLINVAR:447491 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aacb4b7-307e-4f70-827d-2f815f2df0e1 CLINVAR:447496 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba474588-1999-415d-b51e-8ce10b0832a8 CLINVAR:447496 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd0429a3-96ba-44af-9e8a-aeded0ec7a13 CLINVAR:102529 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 174a5e01-d262-4389-b106-bc766f07fdfd CLINVAR:102529 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da8f638d-4843-47c3-9332-857cdb7f3c98 CLINVAR:1693234 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6859cb9a-93ba-4cf4-a764-723249a45ae7 CLINVAR:1693234 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37a333b7-c62f-4556-b50b-bc38de1db9c0 CLINVAR:102906 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3da6b7a8-6bf3-44a3-96f9-c27cfd038394 CLINVAR:102906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67fcf6ca-7b77-4718-bfb4-56645fe62430 CLINVAR:102465 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f2e74226-6662-4960-a328-70ac82301620 CLINVAR:102465 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e668755d-8561-4cd4-bfb4-680961741153 CLINVAR:102470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cfb4ff7-56b1-439f-8ac0-6f1b6b7e7138 CLINVAR:102470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd4b37c4-983d-46a1-974b-66af76f7388b CLINVAR:1691455 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f329e04f-0842-4ff8-86f8-6042502d6d3f CLINVAR:1691455 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c09357-6af0-40bc-9de4-d4bd5ba7b0fb CAID:CA16020935 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a13dd98b-45bf-4737-bcb8-20be62d9096c CAID:CA16020935 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dd6fbbd-734b-462e-beca-28ee5135a8b0 CLINVAR:1691466 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2e86c11-a35c-4d59-bea0-0214b0a4f2f9 CLINVAR:1691466 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1a846b5-63e9-43fe-ab2a-5d284bbadace CAID:CA399792054 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9988a9a-3000-4fc9-9586-1e3db8e5a3ba CAID:CA399792054 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3199476-9614-4b65-83d7-699630b7ee3e CAID:CA16020923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27087d19-ebf1-4202-acbd-0b8f2253c258 CAID:CA16020923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5578905-de40-4059-b6dc-130f69b9ab3f CLINVAR:102762 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99e1c8cb-9783-4475-95e2-7c95c480c58f CLINVAR:102762 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d28eb936-182e-478a-8c0e-effcf98baa70 CLINVAR:1691484 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3aef6694-a71a-4227-bd82-6084a0bbea9e CLINVAR:1691484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a04cd21c-0db2-46eb-8b49-b7b8d2cddb80 CAID:CA16020898 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee32df5d-62b3-4596-97af-95b87442da7e CAID:CA16020898 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 899133d3-503b-402a-bc01-e6aba5d89bbd CAID:CA915940332 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cde9c94-90e6-48d1-a78c-626854f32dea CAID:CA915940332 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a242ad42-ca7d-47a2-b7c6-fe8f2bcb561b CAID:CA399794330 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee9dab6e-b0ae-4a19-aefe-9d0d2dd6f8e1 CAID:CA399794330 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dab64747-b325-4cc8-8716-29650da803a1 CLINVAR:1691487 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6636770b-9219-4e43-aae4-11f753b1c5d1 CLINVAR:1691487 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6724ed5f-24fa-4274-8489-311f7411a186 CAID:CA915940323 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d5bb273-4703-4e63-8417-e4978379df1e CAID:CA915940323 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9097720a-fe75-40ef-870a-e458b66d0092 CLINVAR:1691489 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bda0044-263b-47c7-a6aa-e61db08d1a7d CLINVAR:1691489 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13c42e9d-bca4-4e9e-9c2c-c0c1aa9a7d14 CLINVAR:1691456 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a25c57cc-7e07-45b4-bb97-84bf221566d9 CLINVAR:1691456 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7137bfe-04d5-4386-9799-2c75b3f33e96 CLINVAR:1691457 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e63e9692-5654-4bae-92c5-e00902dae145 CLINVAR:1691457 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 890eea6b-e8d0-4e81-9870-b4a46ccb6113 CLINVAR:1691458 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68f95541-af20-4d72-9194-563f0f00df29 CLINVAR:1691458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2db28db4-fc6f-4f27-9fe0-c705e165ffac CLINVAR:1691459 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4286146-a06c-4cd9-96db-b003163f77ff CLINVAR:1691459 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd9fa9a8-fe1a-401b-aade-18344257c42a CAID:CA626684863 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7ed8ec9-077e-4f83-a8a1-59a85ab760cb CAID:CA626684863 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 376f78e8-5847-45b1-a079-771abc1be623 CLINVAR:1691461 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 267f7c48-613a-4b0a-8f0e-4d4246293964 CLINVAR:1691461 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb072a45-ad3f-4e56-a53f-d8fec0670236 CLINVAR:1691462 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4279b960-43bf-4e36-9420-94a1e6cffd3e CLINVAR:1691462 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dafda478-3e22-4726-ba33-3e1a5987c7ed CAID:CA399804780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc051f16-4554-47c9-b138-b71cb082b3b3 CAID:CA399804780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a47f654f-4e81-4878-aa09-e3e02667d9a6 CLINVAR:1691464 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06c4ffa6-ea6d-49d4-aeb1-c6ecc7b1cc12 CLINVAR:1691464 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d997b6c8-7a85-4a05-a520-40601d78cf27 CLINVAR:1691465 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb76896f-22cc-43cb-a58c-def1d3f1f3e5 CLINVAR:1691465 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a7167ae-52fe-41c6-b08e-c9cb95fbbc1f CAID:CA915940689 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb502cc0-d62f-4b67-9fa4-d0f025952687 CAID:CA915940689 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c972163-f704-486b-8e0d-c8b71711c53f CAID:CA915940686 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4739a9bb-d959-4d70-b30f-35461b39615d CAID:CA915940686 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8d608ed-b16a-4b40-a374-3712d083aa2c CAID:CA915940685 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e09e4a0-a660-49d2-9bc2-c66de6063e93 CAID:CA915940685 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f75a260-aee2-4293-84d9-df617b5032d5 CLINVAR:1691470 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37056e0e-3e73-4880-b82a-c0f552ffc35f CLINVAR:1691470 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4cb68a9-603e-4378-a4cc-85159cb1e955 CAID:CA500261104 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25ab7924-3a4c-4a98-a3b3-777f2d8263ac CAID:CA500261104 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec21dfec-f964-4251-a9f3-d9781f90bb59 CLINVAR:627290 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0a85bd5-80a2-4873-ab4d-149b7b377504 CLINVAR:627290 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5ed615c-6419-4055-bf7f-2581cc7f3ceb CLINVAR:1691472 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cff57875-2863-4642-a268-0c375781e4c1 CLINVAR:1691472 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47091fad-0501-44ca-850f-79aa0b8ccfed CLINVAR:812734 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fed52713-dde0-40be-b421-82e7c9c63b17 CLINVAR:812734 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 770e3e5e-22ef-4a78-9715-922e40956c3d CAID:CA915940687 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddb7e738-9f72-40ba-8a86-da00e42b5950 CAID:CA915940687 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4689e850-7a95-40e3-addb-a0c3b987593b CLINVAR:1691474 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74a67b70-24ef-44e2-94b5-a1deab652547 CLINVAR:1691474 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0f4f471-216d-4497-b551-0f2aa02715a5 CLINVAR:850885 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d58bbc0c-bfb2-4123-ac5e-c8626eaced91 CLINVAR:850885 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8724454-ecf0-498b-9fdf-e55b0f8c36a5 CLINVAR:1691476 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc2b5163-8e89-4ad9-a743-9786334cc532 CLINVAR:1691476 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2e9c7d1-b694-45f1-a6d6-62a7b6674884 CLINVAR:1691477 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1341b11-a88a-4e86-89cf-d6d5e7c4ebf2 CLINVAR:1691477 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80a5d565-83ff-4e33-b745-332f017ec441 CLINVAR:1691478 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27908a87-949a-4e59-aacc-d01adf6e2b48 CLINVAR:1691478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe770bc9-7913-493a-ae6e-670dc7c2fb4b CLINVAR:626980 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 029b6d04-7af4-472e-abd6-2d121094ddce CLINVAR:626980 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40b15f8a-a369-42d1-9ee3-a5e91ef7d7d6 CAID:CA915940605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27adadcd-3da5-4304-b166-c0db960f482c CAID:CA915940605 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d98ac9f1-6e0a-46c5-bf47-97cf2353fdbc CLINVAR:1691480 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10877e37-eeed-4259-8206-6156422e2be7 CLINVAR:1691480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baf50a0c-2d37-47a1-b1c4-a743893414b4 CLINVAR:430539 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a77a813-b8d8-431c-bc0c-035944e478ab CLINVAR:430539 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00f624db-3b2e-4e32-9487-d4b9fed1a605 CLINVAR:1691490 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49cb4fe5-7b74-40ef-81fc-987fd4b20b5f CLINVAR:1691490 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0fc9f33-7ece-4726-9c25-9a83969fdf33 CLINVAR:1691491 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d11fe327-c5b5-46e1-8854-4ffbf435a679 CLINVAR:1691491 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22389467-204b-4356-befe-11236b42ae49 CAID:CA915940808 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b9d20a7-262c-4bae-9f43-0e1175ad4a61 CAID:CA915940808 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dad3b10-8587-4450-8738-93661c7ab43d CLINVAR:1691482 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9304d99-68f1-435c-9a73-f39111aa522f CLINVAR:1691482 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 199cc97c-b28b-4c9f-933c-c10570ab54df CLINVAR:1691483 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2acb63d-9e54-4802-bce6-4fe225266e56 CLINVAR:1691483 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93706984-28d2-46e6-b4ea-244b48678424 CLINVAR:102737 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 697ec528-bd1d-4e52-8064-fe66d63036bd CLINVAR:102737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69e6ec42-d2c3-4589-972f-987cdcd82973 CAID:CA2573051040 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4bec760f-e84d-4e20-a5d1-399d12cde795 CAID:CA2573051040 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e79c6147-233a-49dd-b7c6-68c0a8bf3935 CAID:CA2573130154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82d332be-0d0a-4962-b901-167c462d9a79 CAID:CA2573130154 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af282bb3-d53b-4f5c-b7b2-4c61f3be1139 CLINVAR:1013621 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8782ad25-6c42-4e20-bcd8-a9b8468e0eb4 CLINVAR:1013621 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fbb444f-35ed-46fa-88fa-0f84b09bdbd6 CLINVAR:988835 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c476b656-b8f4-48f5-8eaa-532b1630af8b CLINVAR:988835 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb4bf759-f4be-47e8-b9f9-bcbd0b122b77 CLINVAR:812739 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 114c5250-4812-4701-b626-a9d25ccfc977 CLINVAR:812739 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cef963ca-6399-43df-9005-b5661d9e635a CLINVAR:1479078 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10218f91-2fcb-471b-ad20-70f1cd83cbc5 CLINVAR:1479078 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b802223-b017-4aaa-b718-08cfdb0505ab CLINVAR:1693219 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4bc696d-4a67-4aa7-9f2c-bea9b136cfcf CLINVAR:1693219 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2911b05b-c1e9-4f16-a7e5-a9ce617c13ef CAID:CA2573051300 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c94930b6-966a-40f1-afeb-0f57ad121dae CAID:CA2573051300 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5de03715-07f4-4d51-bffa-0b7d53f00f31 CLINVAR:143485 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 585ab42a-2b28-4dc7-96f2-44b46786f3d4 CLINVAR:143485 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2b0aa2-3705-421d-b148-5f8e941bb503 CLINVAR:143345 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a84adeb9-adf7-4412-ab67-9b98b6499891 CLINVAR:143345 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d22dfefb-cbfc-4a9f-8012-7945a2ce88f9 CLINVAR:11835 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f820b88a-fff2-4e8f-b237-1371f5adb8f8 CLINVAR:11835 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03386f23-2b1e-4692-bd54-56e6b5ad86d6 CLINVAR:11809 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd8b9eca-a360-44a4-9c6b-8d20c93d4f7e CLINVAR:11809 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4036d88b-4d14-4c8c-8c97-9ab7e769d3ae CAID:CA915940209 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c23fa120-7ecd-4f10-8aa5-bf9b091d7646 CAID:CA915940209 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccfc4cc3-3986-448e-b559-5f9a9eb59a09 CLINVAR:102537 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0077dbaa-9643-41ef-86e5-0dc50ce9fd23 CLINVAR:102537 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 985b72e3-feb6-4a5c-b994-010f8330be0b CAID:CA16020907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 093a9288-dcee-4e0f-8b7d-131f49440333 CAID:CA16020907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eb0a09e-851d-4702-832b-202e45d41c02 CLINVAR:102920 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 154c287e-8468-4e90-acd3-8ef89db16ece CLINVAR:102920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c6f0a24-b752-4819-b456-dc070bc7cb9d CAID:CA16020796 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29bf0886-8a07-448f-b5db-dcb478b3b2c1 CAID:CA16020796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 752837d2-09bb-4297-a3bf-eda5cafcea7a CAID:CA16020744 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba704dd4-e8bf-4770-95a9-269356a12e3d CAID:CA16020744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0055577-d254-4428-abcb-6a639a2afc95 CLINVAR:371373 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff09df30-77e7-4d00-bdc9-d6af91204f9b CLINVAR:371373 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f03cc59f-a777-4396-b803-715efd823f1b CAID:CA16021007 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30c76099-5aa3-49bd-a3ea-0a17b989b7c2 CAID:CA16021007 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec61b58f-2930-46eb-a7ad-e5902096579e CLINVAR:102615 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afda35bc-1e03-402a-b542-56a1a2a01169 CLINVAR:102615 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3204e873-9263-4716-a876-d3c58fa21ee5 CLINVAR:102622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 571d0026-eb0a-4249-9794-23025a2bdb01 CLINVAR:102622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3db1e8cd-a0bd-4115-b334-6c5c655bfd86 CLINVAR:1699992 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1193af9f-5243-44a3-8cd4-8dde1d3ae898 CLINVAR:1699992 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df8dc7f3-540d-476f-ae1a-694dc104869b CLINVAR:189082 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87ef06c3-e51e-452e-ad32-ba4ae405f33b CLINVAR:189082 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64793515-19b3-4456-a573-bea9ad790719 CLINVAR:1693549 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4d10721-526e-45ca-800f-bee8be62668d CLINVAR:1693549 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faf6266b-86fa-4a71-b21a-f8a82b63b102 CLINVAR:556117 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 244f010d-11c7-4b22-86b9-2285c6f1460b CLINVAR:556117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40b037ba-c650-4eb9-b9fb-f0709f0cc227 CAID:CA401325305 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46fde2fd-582d-4894-b5d7-71d0e8db5fba CAID:CA401325305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de106ea4-15f5-4018-8791-ba5e5537c503 CLINVAR:988811 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d997d8b9-6149-437f-bc52-ff796a33ecf0 CLINVAR:988811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 325b832b-7504-48ee-84e8-fdaf20bda986 CLINVAR:1396349 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04a2d024-d844-424e-b231-7d150eeaa62a CLINVAR:1396349 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b343717a-0eed-4e37-bef0-c641d01480c1 CLINVAR:9647 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6dd72095-b725-4945-a4ad-4e7d1893bcc2 CLINVAR:9647 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b82a143d-93e6-4469-b366-5f8642f2ea3e CLINVAR:9644 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f13d0d3-640d-4434-ad81-12732e60c215 CLINVAR:9644 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed2b0f25-28b4-4a86-8a5f-9b4489a2289c CLINVAR:425040 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6d4a6120-c1c0-4dbe-b94d-638e6aabcba7 CLINVAR:425040 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b139b15f-3f00-415a-947f-d284223801fd CLINVAR:207248 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36a02537-7723-445e-bcae-d3a6a4ad736f CLINVAR:207248 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea4b6203-86bd-49f2-9ce4-549b3a85bccf CLINVAR:236302 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5c70f2a-e9c5-41a5-8df3-81a57d8dc46d CLINVAR:236302 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f59156d6-c68d-4fd5-9d8f-8b2d441cdc5b CLINVAR:167092 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5080468-a06a-48e8-87c9-b5d2b9774e97 CLINVAR:167092 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595d1eb5-6e16-4847-a68e-ad851dcd68c2 CLINVAR:160079 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 131367e6-c904-40fa-bb3a-a882afbd8409 CLINVAR:160079 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9febd59-cc1a-4b16-b3d1-b2055332d190 CLINVAR:9646 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a41983e1-5638-48a0-b842-6a0e365ab555 CLINVAR:9646 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 183f9a8e-0c8f-4662-a9b3-68775c5a53ac CLINVAR:65921 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2932d7d6-c4d8-49d6-af08-528eed79c73c CLINVAR:65921 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8385d8c3-2d61-4f66-884e-81900eed5277 CLINVAR:986501 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e50b9fc8-4861-45ba-ad93-a1e4cf703dbc CLINVAR:986501 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dbf7fda-7378-4cc4-8886-9a4f93bba89b CLINVAR:217366 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96486ce3-7b9e-46c4-8546-25d92a39e891 CLINVAR:217366 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 762e670a-aadd-441a-abb4-1dac327429a6 CLINVAR:217365 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bddf66db-89d1-45d9-97a9-ca73131cef6b CLINVAR:217365 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d675adbb-613b-4248-94e1-979943e9977a CLINVAR:160214 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9692117-9dd4-4234-92bf-68016ce05d8b CLINVAR:160214 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30f7bf7a-0587-4a40-bf35-7460c2ecf423 CLINVAR:156677 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6d7bba1-c4f0-4fe4-ba80-fe5c69f5879a CLINVAR:156677 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 764a5fb8-dd51-40cd-bdda-ef21e628e6eb CLINVAR:156120 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6bb8a6eb-52b6-4603-b61c-10e086f21b89 CLINVAR:156120 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a89422d-3e34-4d77-9a8c-98f34c7cff82 CLINVAR:1693553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d74be95-92ee-4054-bed2-06019e60f092 CLINVAR:1693553 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42799161-7216-4e9e-99c6-b3e9e7ef58f1 CLINVAR:143738 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a3bf7275-b379-48db-a907-074a999d1275 CLINVAR:143738 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79bdccc8-1a30-44ab-b70e-ba825f7e6c16 CLINVAR:156124 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1748e94-539c-4574-b493-948a29d1fe70 CLINVAR:156124 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c854266-7b0a-4224-81ac-d884deaa4318 CLINVAR:191364 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f989bb13-4ed0-48d1-a215-0d8f530e0e2f CLINVAR:191364 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80e56dec-40ee-4c49-b750-38b0a78db17b CLINVAR:1066009 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57a18a94-3a72-49aa-877e-4f67d87799d8 CLINVAR:1066009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62bded72-8d1f-4af5-9e89-06c87f9663c1 CLINVAR:155881 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ab0c65a-f238-4a3b-a920-e66601d38336 CLINVAR:155881 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff39d6e-f05b-42b4-b851-522cfa812f6a CLINVAR:9698 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df2e7ebb-c226-481e-b0b5-f0d71c9b1065 CLINVAR:9698 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82f6ae11-bfa9-476a-8dd4-c4b09510a842 CLINVAR:9691 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ea6d523-adbf-4886-961e-2f54607bc938 CLINVAR:9691 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64062706-a0dc-4fb6-96ac-cc0b7e69840a CLINVAR:65515 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4ce3e4e-a1fd-468d-93af-a510ed020501 CLINVAR:65515 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2201796-617c-4ab1-ab21-9dbafa886f5e CLINVAR:9732 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84054d3a-f0c3-4d6b-b133-72700f045f94 CLINVAR:9732 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb7c17b0-cbff-4ffe-b4ee-11f2c0ba802d CLINVAR:155889 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d3fab9e-ef89-4aab-af08-88e83a24b8e7 CLINVAR:155889 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 365e24b2-12da-40f4-82c7-241e73ff7856 CLINVAR:9693 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ef0c22e-48a0-46c1-a4b0-3dd34e4eb4cd CLINVAR:9693 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a50aff78-6be5-4c90-a0cd-9664662ce20a CLINVAR:9711 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0de4fb0c-b1d1-4128-92c2-fadccff3489b CLINVAR:9711 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62462fa4-010a-475a-88d6-8180bf611186 CLINVAR:9685 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a4d3237-9046-4671-814c-7f808ff1e753 CLINVAR:9685 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ecd92c6-b60d-4b75-96ff-8e70a1118cc1 CLINVAR:9692 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af9ef723-5e90-414e-b26c-9e474d9d4bc9 CLINVAR:9692 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 806eb041-1887-4c35-881f-f18ac581d36e CLINVAR:9548 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4932b0e-caf2-4900-9c6f-3033ed211f67 CLINVAR:9548 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0923495a-8cb1-4805-86ec-f3cffe92d552 CLINVAR:9576 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca649b6c-66f8-4539-810f-8b616be7a795 CLINVAR:9576 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91361c4f-f563-4dc5-972f-8b422d461248 CLINVAR:9731 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de4ce241-eae2-45b4-a9df-6796fb914762 CLINVAR:9731 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f5006b-a416-46ee-837f-d04b1709bc2e CLINVAR:9703 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff7dd691-f30c-4e4f-b7ff-5418375c7a9d CLINVAR:9703 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a3caec9-d05b-4c70-aea2-85daa36f093b CLINVAR:690280 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c69778d-4865-44c6-a548-5ddfe1e242b7 CLINVAR:690280 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b6f74a1-507a-4827-8024-36662e647e18 CLINVAR:9708 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30285ce7-4892-4756-885b-3579d623e671 CLINVAR:9708 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d1e609-e301-49b7-b023-185e8bf81554 CLINVAR:9640 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d89cbb5-0d93-46f3-830a-89994767bb25 CLINVAR:9640 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c838cc1d-b599-44a2-bbff-7d3d7d933795 CLINVAR:988857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cd58a88-d595-4766-81bc-24917e09bba5 CLINVAR:988857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bd9c813-7f4c-40aa-ba62-619de0377a23 CLINVAR:226334 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3905723c-8790-482d-b8e6-cad715566762 CLINVAR:226334 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2692b65-0d8f-4265-9174-726b5bfa9476 CLINVAR:251456 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11f1e965-768d-4747-83e7-35e6afb375de CLINVAR:251456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b13ce5e7-ed04-49a7-bfbb-28dfd06b6bdc CLINVAR:251457 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ddeb75c1-a449-48d5-942c-e02eaed9c653 CLINVAR:251457 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e277f0de-2b83-41e5-971c-682a04412ca8 CLINVAR:251458 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1938ebd-09f0-45ae-9c3e-33979f4cdd2d CLINVAR:251458 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ed8cee-634b-4374-8d22-e4ed0b26a082 CLINVAR:251488 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e56d465-c4ac-447b-ad53-75894878eb33 CLINVAR:251488 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf6286f-9780-4311-9e12-2912bc241af6 CLINVAR:183101 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37725d6c-2acb-448b-9ab9-c4ad84f9e1fd CLINVAR:183101 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36d61848-47cf-47a2-976b-d77acf3dfe83 CLINVAR:251903 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b4d114c-644b-4b95-9b2d-ebc78b8ad13f CLINVAR:251903 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4096bb2-4242-44a2-a186-1fd18c6b92ec CLINVAR:496019 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad550304-2350-4ff1-b4a0-2df1f9f56850 CLINVAR:496019 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfa56f9f-f154-41e8-90cc-c87a895d9e33 CLINVAR:251904 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eedcac9c-9b00-423a-8dc4-b82f03be755a CLINVAR:251904 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbb023d6-4935-4473-a917-48cae38f8bd3 CLINVAR:431531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad5ebaca-1ed6-4401-aba8-c7fff6099a10 CLINVAR:431531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b342f1f-30eb-43c1-9f4a-bcc62ce8cebc CLINVAR:3686 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d2b9b73-ea75-4a55-8c87-5f2a15977734 CLINVAR:3686 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da3f2043-375b-476f-b2ee-ec7ea582e699 CLINVAR:226329 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf8ec58a-e987-4ee5-9dce-959b7bd9e4d8 CLINVAR:226329 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ef22c2b-382e-4c5b-84bd-f7bc48e93b21 CLINVAR:251356 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6e577f5-cc8e-4108-a3bd-d374b7f669fe CLINVAR:251356 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e121c9cc-5662-435d-90cb-b4ee0d00f074 CLINVAR:183092 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 664eded0-f287-469f-87fc-1aa9a70e293f CLINVAR:183092 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ad581f3-0d76-4e6d-a2e0-00c83702bb3e CLINVAR:161286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5dd292c-932e-48ce-a2da-c1739c406b0a CLINVAR:161286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4e8f4a8-1498-443e-ae44-75dd3c6c2829 CLINVAR:586794 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00d73c0f-f473-4608-b33a-0402f5190a4f CLINVAR:586794 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cec4ccf-5897-4411-b00b-8d225ea57eb6 CLINVAR:1700000 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0dfa17c8-ff12-4c30-b060-155af2b9cadc CLINVAR:1700000 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9013f671-7bea-481c-ae4b-d8605cc9baf2 CAID:CA2497030023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97f65a47-f659-460f-986c-af82668fc8f2 CAID:CA2497030023 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86f00a24-a8f2-47fd-aa0d-d0118fad71c4 CLINVAR:1315998 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff5f350c-7608-4f7f-a73c-9413a4e5e90b CLINVAR:1315998 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e32ed89e-9836-4b6b-bb7e-6cf68e7340f1 CAID:CA2573051042 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 784358f0-fb20-495e-8b06-0a6a1ae20b71 CAID:CA2573051042 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4599c7fd-d720-4c8f-aa3e-086f48241317 CLINVAR:14931 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11f9a68f-d8c5-4d44-8395-7f0d5b7ee780 CLINVAR:14931 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b6df029-0196-4d7a-98eb-f59de164f445 CLINVAR:627101 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcd59cb4-d6d6-4c5c-a5c9-553124e01f48 CLINVAR:627101 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b5a6e86-65c9-4a9b-8ecb-16d07e1f935e CLINVAR:561235 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4b50a89-7b7a-47b6-94c3-782712723704 CLINVAR:561235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a3c63da-125b-439c-9c6b-744860cdab3f CLINVAR:1194557 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef5ba2c9-1af9-4a2d-b461-cb524afed867 CLINVAR:1194557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcbafb89-3fce-4120-8623-f6e6cace0ab8 CLINVAR:1488717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d93a6411-28de-4728-83ca-7569be84cb29 CLINVAR:1488717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d573280-28d1-4af6-8d58-107a537f0386 CLINVAR:1073521 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c028322-7abd-4e67-93ec-c2d2a076b633 CLINVAR:1073521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b30d16a4-ce68-4f66-8804-fbf8a47b0fdf CLINVAR:943551 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 902681f4-0a39-4e14-8ebc-a7b5ae681cb8 CLINVAR:943551 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba08aa84-db6e-4f65-90cc-88e81dfed6ef CLINVAR:561225 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64a08b14-57d1-49fd-9e40-ab28fdfa5107 CLINVAR:561225 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74f17d53-7934-41e1-8e45-7922049ca37e CLINVAR:1459069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43bc04de-1fe8-421e-804f-54ed160959ce CLINVAR:1459069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bee250fa-8c66-4ff5-85c0-c86b92a88a93 CLINVAR:666187 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25697c9d-4717-42d7-bd58-436b0d7596bb CLINVAR:666187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d8986a6-f58d-4295-bc2f-1187eaeee3aa CLINVAR:532666 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68cbecae-11fa-48c4-9c69-2e432209d681 CLINVAR:532666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b83159e-5f0c-44fd-9231-1c7e3cf8b23e CLINVAR:660838 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48ff6cbb-5ec5-4ce9-992b-79752475424a CLINVAR:660838 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ade40d6-a4b3-46f5-b015-a99555273269 CLINVAR:843935 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dea2cab4-5269-45b0-b750-0025f6a0f72c CLINVAR:843935 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97969187-8bd3-4512-899e-377836ecfa03 CLINVAR:861043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b96c64c0-02c7-452e-8da9-ec95d61360af CLINVAR:861043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c04a28b5-d8ac-4c17-9957-0a019f8d4380 CLINVAR:898729 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dce0e929-3a91-40af-aca2-bd4f414408d0 CLINVAR:898729 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8ca650a-3c08-4d40-8833-3405cdb44ab9 CLINVAR:747644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen baaae101-8b2c-4638-91d3-15812ac32096 CLINVAR:747644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d63c7f03-198f-4876-ae88-38b789f6031f CLINVAR:1069299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afc765c6-6655-4dd2-b49d-6f8329f993fa CLINVAR:1069299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2259d840-c77e-493a-b8b3-3016a29c5b10 CLINVAR:1076589 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47924e24-b965-44b6-882e-9a5cfc5da587 CLINVAR:1076589 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a68c58e4-fcb1-47d3-9e2e-694e5303f143 CLINVAR:239058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e814e7aa-32f1-461c-957a-4003354e6943 CLINVAR:239058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e8b988-6623-4b6b-b60b-06060a88dd3b CLINVAR:1165599 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35805ea6-6c86-4f9c-b253-62b36b5cf582 CLINVAR:1165599 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1efc586e-3f37-4ce1-aed4-20020bb6f2e1 CLINVAR:812740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b3f5fb5-9a70-4ef0-8448-93ee76b92a5f CLINVAR:812740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa08543e-bd83-4e4f-a8fc-2f68d37022f7 CLINVAR:1013620 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c63ada5-306b-4798-9f75-a8547cc04943 CLINVAR:1013620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42d0939e-9420-45f2-97c0-07d9b0a096a6 CLINVAR:580539 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49ac9a44-1906-44d8-babb-dd80326bf838 CLINVAR:580539 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59e16cb9-00c7-4d35-8fd1-f22a35a696a6 CLINVAR:941820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b011690e-9df0-4b59-8245-0d4b333afe0f CLINVAR:941820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 802ac99e-87f9-41c0-b7a3-77c676d7c45b CLINVAR:1000131 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7362440f-744f-4a7d-a13a-aae027d82cb8 CLINVAR:1000131 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4208c89-cb15-499d-aaa4-36cf56cf3618 CLINVAR:464000 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10ac0ffb-2d4a-4549-90ef-ba96ce7ceabc CLINVAR:464000 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6cd0483-50ac-46af-846b-a3275a4a6539 CLINVAR:463976 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0525e5d0-f695-44da-b7ec-b48df157e5da CLINVAR:463976 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9691ab2-a3b3-4845-bfae-ab9cc7267eb0 CLINVAR:706138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 290d8c28-e179-401b-a66b-88b3993912e2 CLINVAR:706138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6090f265-b568-4817-a33a-e2202b7c5f36 CLINVAR:1012038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 329e8abe-3876-4c35-a5c6-7d579ad9ce03 CLINVAR:1012038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f266f9f0-5b56-4bba-be8b-16e2c520c3e1 CLINVAR:627081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf2c5d1d-ede9-47db-9eb6-7fd396c1e311 CLINVAR:627081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b5bde2-a229-4416-aac9-60eaafefba5f CLINVAR:4468 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df8d67a6-9cdd-4c56-a3ac-88c66d5087af CLINVAR:4468 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feeb03e1-aaea-473b-a30a-5db9d5df1f0a CLINVAR:690480 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f104dae-02d6-4c68-b022-85294345dde3 CLINVAR:690480 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6cd92e5-adb3-4848-a529-53a6274b4b49 CLINVAR:412119 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1beb9f2-618f-424c-91ac-fc00090cd5f3 CLINVAR:412119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f63519c4-8982-40c6-896c-c9665e1771a1 CLINVAR:254350 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47b06bad-885c-43e2-9a45-a0691016f795 CLINVAR:254350 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c224477-12ef-437e-8c6e-05b6ac9b8641 CLINVAR:690454 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8a7c539-0ab2-4911-8786-085dfc86361a CLINVAR:690454 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a47ed80-85bf-42dc-bace-acd813ee88e2 CLINVAR:254344 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5558c881-338c-41d0-b6bc-c1f017336a7f CLINVAR:254344 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fbc297d-1393-4f0b-8c9d-45a02adcc388 CLINVAR:254287 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0856eea0-b51f-4b45-8f8e-3d9b5db161c1 CLINVAR:254287 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a15c354a-4000-4875-97c2-db2ea592c31f CLINVAR:429113 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ec5ebae-8aa1-4f6b-ab45-17d2c5f8c10b CLINVAR:429113 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c46a7623-ad94-40d9-a369-3502fdd21dee CLINVAR:254298 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4689136b-f753-4a34-b04b-3ee927ff9fe3 CLINVAR:254298 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3eaa9a5-d064-4c34-9cfe-97f730725f52 CLINVAR:254355 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d439e936-8862-4e24-9d0d-ff94ecceb084 CLINVAR:254355 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b84cec2-eda9-4399-9e5f-7dcf7d1d5421 CLINVAR:254310 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9957564a-d7d6-411d-9e0f-d42e4ac8f778 CLINVAR:254310 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2870d2c-bdea-41f4-9a66-696e4e43d075 CLINVAR:429148 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a227935-f566-4743-bdad-6603e2dc369b CLINVAR:429148 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b28ea564-2e47-4a2f-891c-7a6e0c95efc9 CLINVAR:429116 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4780a5b-53c5-44f0-bab9-c44b37ca73b0 CLINVAR:429116 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16f2db5b-e137-4201-a769-12470a117334 CLINVAR:477261 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8013aa18-e319-479f-b154-fad4159fe975 CLINVAR:477261 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6a7fd38-3e52-4085-ac26-46c013cf109b CLINVAR:436614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86a16e50-26a5-4d36-a8a0-96ed9329063e CLINVAR:436614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04d229a5-7235-4db6-be38-f58bfa378e89 CLINVAR:627384 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35297adb-43d7-4d47-a219-997bcd40d5e1 CLINVAR:627384 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0a28372-f755-4627-9927-4e3b5201b799 CLINVAR:575111 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 852a3b1d-0bed-4bf3-b5fe-8550d66ed78a CLINVAR:575111 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 256c92ea-2560-494f-95a6-92519731e6f5 CLINVAR:1695375 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 965be200-2217-409a-9b67-cfd9d7e86523 CLINVAR:1695375 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eabae818-59ba-4c60-bf5d-e05ccdd230bc CLINVAR:464008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7475899e-9abd-472e-837f-ac53316e8595 CLINVAR:464008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a4fb8a6-db52-4780-a235-db95b3827fa8 CLINVAR:574330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02fa4905-f130-4655-9dc9-8bea6011ec58 CLINVAR:574330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f40157b8-9ffc-4e00-acbe-0d7f13c717da CLINVAR:580203 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 016c93d1-1210-46bc-90a1-87a5cfaaf415 CLINVAR:580203 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e43ebc8-fb4b-4652-9929-02f06d133e44 CLINVAR:650411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10661ac1-5781-41c9-bc22-7faae65dba2f CLINVAR:650411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d7e8f73-d528-47cc-b308-c2a3eb340076 CLINVAR:566588 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47332921-5140-45ba-9cf2-0d0b6d8b9aba CLINVAR:566588 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a06b4d1-c78c-4166-9056-1a02e489ab35 CLINVAR:649946 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 480576a3-1988-4882-a9c4-81bed45fd365 CLINVAR:649946 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8c4b8fb-60e6-42ad-acc0-83f772dac5f1 CLINVAR:392183 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 638baffb-67fb-4c3a-b960-11852fb91258 CLINVAR:392183 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebcb46aa-d978-4985-b05c-72006ba0b5c6 CLINVAR:242130 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7120b74-4875-457b-97c1-7d6ce2447ae1 CLINVAR:242130 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf549bcf-f6c1-4d01-a6e6-a728eca15efb CLINVAR:947388 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73dcb013-230f-4a20-bcef-bd9208f27a5d CLINVAR:947388 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baf3f565-2b69-4a48-a795-e02a168d2906 CLINVAR:412120 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0ddbe15-e071-490e-90e3-11449f23b800 CLINVAR:412120 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71513e1c-9b75-4e8c-82a8-61b5445ec501 CLINVAR:242076 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 278d658b-f143-4ea9-b8ab-963bcb2f64b1 CLINVAR:242076 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f5f0128-1263-4310-8966-aa791a85ace0 CLINVAR:477260 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c991fc2-c357-4805-bec9-e342d66ebb60 CLINVAR:477260 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ec249dc-6ba1-4e3e-8b66-1650f5e3c980 CLINVAR:690445 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8f474613-8300-4f5d-9342-3bf622b070fa CLINVAR:690445 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01f6af4c-49e1-419f-a38d-eb4b4f55683c CLINVAR:133202 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d233c708-fee3-4b4a-a2b0-fa5a5bccaddf CLINVAR:133202 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1088f276-d28c-4d33-80cf-0c8b1237c828 CLINVAR:478159 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91b5521d-28f6-42cc-b292-9d02b8d39122 CLINVAR:478159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 835916be-4f5a-4258-a755-3eefa3cd1837 CLINVAR:133174 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d930644-00ef-4078-8511-af42346af8b6 CLINVAR:133174 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 477b122d-f17e-4e02-a613-fb5d00c45288 CLINVAR:65981 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97040ec0-a64b-4b82-af00-efa1de4689b4 CLINVAR:65981 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95621d51-1839-4dc0-97a2-1501bda639b0 CLINVAR:133028 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79fc83b1-ce4c-4d8d-8319-5d9b426cb782 CLINVAR:133028 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a20d85b2-87e5-4375-ae18-0c8a74b41df6 CLINVAR:133012 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fe869a5-2db7-4f63-9303-299f08e10f97 CLINVAR:133012 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3916a773-59f6-449f-abc5-02ca9f24f5ea CLINVAR:133098 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 419aab06-b63f-4858-8a24-cdfd44b84da9 CLINVAR:133098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fac26564-bf2e-4ed1-bd97-eff4a20c5423 CLINVAR:133074 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17298b8e-5d73-491e-8c16-fe34bda9455e CLINVAR:133074 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 156faaff-0d56-41f9-a799-b110a8909542 CLINVAR:133072 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b933086-9e4e-4e8c-9c3a-e2cb3b5bb472 CLINVAR:133072 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87636017-0abd-4cda-a1fe-ee88f3109458 CLINVAR:12978 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7976714-cfb9-413a-bd69-979598ba9764 CLINVAR:12978 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80d6bda8-e4b3-4201-9aea-bf6ffde848ac CLINVAR:133240 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e655966a-8fe9-4e2f-a4f2-6649537964cb CLINVAR:133240 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9156ed7d-ec1c-4d41-8c2a-68940536eb96 CLINVAR:65980 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44a3a64a-e91c-4158-815e-4abb117d830a CLINVAR:65980 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de811d38-6a0a-4b07-abb8-cc4c2b58f703 CLINVAR:65979 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 857c7f8f-45ce-4b21-b755-fc28d332878f CLINVAR:65979 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8abda6b3-b2c5-42cd-9193-59c0b6e02ab0 CLINVAR:12966 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adc3fbdc-5445-476f-b285-002a09c47450 CLINVAR:12966 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02f26c2a-79f5-4287-b5cf-c62b87c70ab6 CLINVAR:12970 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10f5e7a6-a161-4fbd-adb5-189478516e36 CLINVAR:12970 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb4ac446-02c2-4ecc-900a-841444e34c64 CLINVAR:133189 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af55220e-3644-4f76-baff-dcf640de1cc7 CLINVAR:133189 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac3b412e-d2e3-42d1-8b81-8d370cb7006d CLINVAR:133183 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed62014f-cdcf-4701-bc48-19e15be68bfd CLINVAR:133183 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68179331-0daf-4d79-953b-1cc19f504aee CLINVAR:133180 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bd19947-2135-4c62-b817-fd63d889a743 CLINVAR:133180 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 298393fd-e2f2-44d9-90ee-c972084a09b9 CLINVAR:12965 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2716dd0f-df99-4df2-a683-eee588dbb558 CLINVAR:12965 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ba0061d-3b45-443b-8b71-ae129f942489 CLINVAR:198090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2902eba7-07d3-4cee-ba7c-9f911ba25bec CLINVAR:198090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e00fb6c-47d5-4f65-8e43-7bfba4e36159 CLINVAR:448981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09f5ed80-b75b-4634-be2a-6974a0d49624 CLINVAR:448981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8c9bd29-8b12-4a6c-8d1d-68d90d68f045 CLINVAR:932849 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dffe1530-0950-4baa-a6a9-810144460130 CLINVAR:932849 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b4d75aa-0eb0-4095-a67d-fe9fb149a42d CLINVAR:932850 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26917a6f-f11e-400a-ad82-e919d82764e3 CLINVAR:932850 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc228ff-a54a-4e0b-a155-a0b359e498b3 CLINVAR:840694 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9e0ec8c-f631-474e-8525-1a9c71bd0a72 CLINVAR:840694 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10e905fc-9649-48b8-a153-8e2e7f257afa CAID:CA397723954 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e0ac34b-241f-47a3-ab6a-409bfa7f11d0 CAID:CA397723954 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68d23739-6b9e-4578-a5f3-f554504faeec CAID:CA1139768925 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 703036aa-4f6f-42bf-b01f-295bce4ecf44 CAID:CA1139768925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e67596a0-e785-440c-bdd2-ed53845be440 CAID:CA16020958 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51086651-4f22-42fb-8aeb-6ddfafa1a949 CAID:CA16020958 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1b65d93-30af-4ebf-b5b0-1414d0db4bd2 CLINVAR:102522 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96825d11-14bd-4907-a1ac-0cbf77e97cf5 CLINVAR:102522 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d26b00b7-797f-4652-ae84-f9d7c45e165e CLINVAR:102524 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6e7cd51-233e-4299-a2cd-d988c5077172 CLINVAR:102524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57478ca8-81c8-45b3-8f30-0fbb6b28993c CLINVAR:102548 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abd07392-9a93-4aeb-ac00-a91c49a1ad2f CLINVAR:102548 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b85ee6-04d7-4852-bcd8-362dadc1b3f1 CAID:CA386304006 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdbb405b-c5de-42e2-a68a-d3beb82f9f48 CAID:CA386304006 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bb97060-9b9b-4d75-8953-c9e18cd3bf7f CAID:CA16020928 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d353e193-022d-435b-92f4-19bf299da2c1 CAID:CA16020928 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8900eb4c-81d8-4b3c-a514-6e9c6ec646f1 CLINVAR:102855 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 819e048e-d747-4dd9-b0f2-b473542eb136 CLINVAR:102855 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e30ddc1c-169e-4adf-9f92-a3bb9fd0fb2e CAID:CA386493446 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 952ce309-ae40-4275-9ec6-5e5585d03e69 CAID:CA386493446 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0261a948-77d7-4264-a63a-c86e957dff52 CAID:CA386493436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 43579d57-79ed-4bf9-bfbc-79155a174208 CAID:CA386493436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4041ca6f-4499-4494-ba09-22d554b6ef38 CLINVAR:164401 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03277d0f-3b5a-4911-86a9-e37503ba1694 CLINVAR:164401 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2325589f-b09f-459c-a096-f51cdbd362d2 CLINVAR:43098 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d407faa-8eb6-47af-98ab-0205b0d7ae0f CLINVAR:43098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b799c3f0-ac67-4ef0-b031-86fcbf868dba CLINVAR:177627 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7517dd4a-2b69-4a1e-9d8b-a1bf8d1289d1 CLINVAR:177627 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 484e034b-53d0-4edb-a005-c22c084ac47c CLINVAR:181267 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22af4607-1def-4d28-81d7-7e4c01ad4842 CLINVAR:181267 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35cbd58a-f3cf-429c-ad22-1ccaf1af9642 CLINVAR:42834 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cef9b14-8e7c-4505-a8e7-ce400f46ca7b CLINVAR:42834 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fef2201-33ac-4110-863f-461050052d76 CLINVAR:228918 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be75c091-ab7b-465f-9b32-348eb89cc5b3 CLINVAR:228918 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e05ca7f-bc9c-4014-9ada-b4d8c62ba49e CLINVAR:181349 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc1a94c4-602b-4df1-a79a-5a5d604478ec CLINVAR:181349 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70366fe2-3569-4dd8-b0d4-56bd77488af6 CLINVAR:42912 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 818be3c2-1ce2-407c-9334-41c5a5797d56 CLINVAR:42912 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62456176-e44b-4010-96c6-e10582ab1563 CLINVAR:181202 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc21f57e-3595-40b2-af89-45f5bb474507 CLINVAR:181202 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6aa28b2-4c77-4ddf-9b78-889c6a018854 CLINVAR:164351 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93f826a2-7b39-49ba-bdc0-dd5c867c8d10 CLINVAR:164351 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0dfe742-e9d2-4cf4-a205-ce3dc2753ff2 CLINVAR:43110 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e70031cf-7510-4ee9-bd41-284759e70ac8 CLINVAR:43110 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e255e4c-cd88-4712-8fd7-817d60399740 CLINVAR:181324 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d865787f-bd11-4fec-95e2-06494eda45ca CLINVAR:181324 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e391d0-aa2f-4490-8898-04b73a6d4350 CLINVAR:264607 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b314b33-58cf-4cc0-aab0-931d88961d3e CLINVAR:264607 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8907e4fe-ddca-4b18-8800-3c69a79ca9e0 CLINVAR:43196 biolink:associated_with_increased_likelihood_of MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23ad649c-28fd-4ae0-9b89-10b2124b1482 CLINVAR:43196 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be84c99f-2ec2-410c-8ea1-4a03392428c9 CAID:CA1563057 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b961d1f8-8e0f-440d-94a8-8f417187ed3c CAID:CA1563057 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e988cdb2-2999-4d3c-99da-a8df4137b35e CLINVAR:1699993 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ed9c2b7-6a1b-4a34-b429-9dd263b34d52 CLINVAR:1699993 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8353bc29-93d0-4b74-9168-7b3bb4803472 CLINVAR:1699994 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a60e8d29-2d52-4131-90d8-c1b4d506d2be CLINVAR:1699994 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a2fe52a-2de4-4a4f-9e97-63c3b5f83e25 CLINVAR:1699995 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ec4db92-75bc-4b7e-879d-b2fd4496fa05 CLINVAR:1699995 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26eea130-c94a-421c-aebf-7b41bd17c279 CLINVAR:1699996 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3474dac-7337-4f72-b6e8-4e228f61ab87 CLINVAR:1699996 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca2ed42-4adf-494e-9a1f-7c48dc7b985a CLINVAR:1699997 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f919e273-efc8-4c79-b46c-66812f7743c9 CLINVAR:1699997 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acd80e67-fabb-47fc-83b2-8fb9938ecb9e CLINVAR:1699998 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57327dbb-34fb-4df4-a171-4e06971c0b49 CLINVAR:1699998 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59e8e978-b1b8-4f64-80bf-5f4a70ac1cdb CAID:CA386967815 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e05eabe-5430-4bd5-93dd-dc7a31710455 CAID:CA386967815 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cb8f1ea-22f6-41c6-a629-d3081cc90808 CAID:CA386958691 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4837f470-4506-4d9d-ba03-ac8c0c6ee150 CAID:CA386958691 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee59c4da-60b5-42e9-91c3-9c572e040bec CLINVAR:1804171 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33ecc79f-d1b7-4063-9c84-1a170f942e1f CLINVAR:1804171 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c803dd63-6177-4481-b62d-31600f309f8c CLINVAR:203585 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c250fb30-a76c-4457-8e6c-5d151d94cdf9 CLINVAR:203585 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb547a69-56c4-48cf-abec-5ad290bfdfde CLINVAR:371449 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ad3143c-4b78-4519-9bb7-56b3bc281ef7 CLINVAR:371449 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d60670e-e6e0-40d7-b652-207f1504bd4b CAID:CA397722455 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea0c82d4-3569-4042-a269-fa73ccba89bc CAID:CA397722455 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4b618f5-7b1f-4084-b2e5-9e12be82cbd7 CLINVAR:21025 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16809220-f306-4d46-9612-eb754fb314e4 CLINVAR:21025 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eee82a24-69ce-4092-bbbc-dccf7b775fb8 CLINVAR:92275 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d627219e-7d7b-4521-9fbe-b06cda329573 CLINVAR:92275 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d7cc8b-497e-40d0-9099-700310ac1c83 CLINVAR:440555 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 846fe077-8d97-4f0a-89c5-6410062135fe CLINVAR:440555 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cb9ef7f-afed-420a-ac24-7d47f3e77657 CLINVAR:251105 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f8986f0-7a44-479b-8a56-531461407359 CLINVAR:251105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de083f5d-5ede-4d44-8aa5-4add2b3ff82c CLINVAR:251699 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88c8cf90-534a-4d25-926e-e8c152864290 CLINVAR:251699 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61bc699b-9820-4e1e-8893-4e27e16b30e2 CLINVAR:3695 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42c0841d-30ad-4a21-a08f-e57e2c5da7a9 CLINVAR:3695 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d98b0750-5260-42c0-8f70-f7df57bebb70 CLINVAR:36454 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d61ee7c-f27f-4eb1-a3ed-dca8c0e3a671 CLINVAR:36454 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63707a9c-14b6-4802-a8bf-cac1ce4d4886 CLINVAR:162499 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef7290f6-3ce2-4996-bc95-ac1644a4e05b CLINVAR:162499 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20e0c1dc-2d1f-4591-8bb9-236d5c142eda CLINVAR:226363 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44183f1a-bc78-46a3-b674-0f5446088fc2 CLINVAR:226363 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffdba1ec-3d20-496a-a88f-7d546a5cab2e CLINVAR:251938 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb9af1fd-d1b3-4db0-b42f-b962bc28be78 CLINVAR:251938 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d96a8397-c5c5-4133-aa82-4ba675da5d28 CLINVAR:251085 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44581290-608a-4501-91c3-4cf74010d86d CLINVAR:251085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01b87464-5ce1-4517-8dcb-49519f62a7dd CLINVAR:251436 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e445548c-ea33-4f62-84ed-af95dd228b84 CLINVAR:251436 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55f58290-e707-417d-9ca5-e32dd6d5f29f CLINVAR:375806 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ebf8ebac-2758-44f8-ac22-7b8c9b7fd987 CLINVAR:375806 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b41509-5235-4ed9-b7ab-5436e3043573 CLINVAR:373769 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d525cf4c-af6d-48dd-afe6-c6127dd568e5 CLINVAR:373769 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 237358ec-4c48-4633-a40c-65934ef31a30 CLINVAR:252302 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2799e845-1e82-4c4a-b220-266405601ac1 CLINVAR:252302 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b047cd77-7b56-4d19-8037-767bf98806ea CLINVAR:250954 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23e68038-32e0-4007-983d-bd004fa9b3de CLINVAR:250954 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e387e99e-31d1-4c42-a1a3-6ca0ec434884 CLINVAR:250980 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ef58583-c56d-436c-b4ab-9fdd18abea71 CLINVAR:250980 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d2f838-a653-473a-8c15-4cc46707ca15 CLINVAR:250981 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5fe4cac-23e8-4bb7-9c64-4ea4f7a87170 CLINVAR:250981 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3927764-45e3-4443-8f9e-3940ba9db7a2 CLINVAR:251926 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af384245-ba55-4781-9212-78df28ac17f8 CLINVAR:251926 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b35b6cbd-40aa-4eff-9076-29470b45bf7d CLINVAR:252330 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5321e7a-7243-40dd-90af-e7ebbb020c43 CLINVAR:252330 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e88c8fc3-5ce6-4e1b-94e8-36429bfd7aac CLINVAR:1703212 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 238194c9-ebb2-460b-a4bf-33a5b55681c1 CLINVAR:1703212 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9ce2525-db6a-490d-8bf1-fa24ab1cbde1 CLINVAR:1703218 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95d6726d-2dd5-402b-b6e0-c7a38bf0b4c6 CLINVAR:1703218 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fb50377-2029-4a07-b18f-0ea595a80b8b CLINVAR:1703219 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32f16534-3a12-4f68-8a96-6df1bfca5712 CLINVAR:1703219 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5a14a6d-42ae-4fe8-a174-bb2ed4a3de43 CLINVAR:1703220 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5aa45258-f92d-4580-87d2-854138640d51 CLINVAR:1703220 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ff5f0c-c522-4b43-b56d-9b91ddd04c29 CLINVAR:1703221 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a40586d-d888-49a1-98c2-b60bd9ed326b CLINVAR:1703221 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a727fff-7533-4a27-bbc9-fa2b46302fee CLINVAR:1703223 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4cd5b7cf-25ca-40d2-87da-17b977a36118 CLINVAR:1703223 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 666fd04e-3b16-4310-bd85-2bc11b2a65a3 CLINVAR:1703224 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1568deb4-3f39-40b6-afab-800524cd524e CLINVAR:1703224 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a7dd857-4094-401e-838c-445f208424ae CLINVAR:1703225 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11b718a3-d4ae-45cd-8f42-2e1131564044 CLINVAR:1703225 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b499d4a2-704e-4498-bba7-973252a69703 CLINVAR:1698724 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5992861-d24b-40d6-a12e-2b2e9d554bc4 CLINVAR:1698724 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce161c71-7695-4169-8a3d-e9c5a18478f7 CLINVAR:1703213 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3b16b20-40e7-408a-bb52-9a772b0345e8 CLINVAR:1703213 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c7a957-9469-4a6a-a898-a9aad023f92d CLINVAR:1703214 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d93958cc-b0f2-4375-ae8f-cd0c7180225a CLINVAR:1703214 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc08f0c0-558b-466d-b78f-ab36a43b144a CLINVAR:1703215 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1fe9020-8511-4ba9-bc41-df25ad91692c CLINVAR:1703215 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e62abe5-34d2-4250-995b-42b07611b70e CLINVAR:1703216 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8236e838-a610-4f1f-aaa5-b06ebfd6e8d4 CLINVAR:1703216 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 765970d2-d0c3-44be-80b3-5fa01f288359 CLINVAR:1703217 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 235b4420-ba50-4efa-872c-caa2fbaf779d CLINVAR:1703217 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 860725af-8c2e-4660-8c0c-ad4adce771ac CLINVAR:9712 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2318177e-187c-4471-961c-e4949bdcd0fd CLINVAR:9712 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59727df2-a82c-4dd6-8de7-fce5ad1e19ba CLINVAR:986458 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55698629-1ce1-40c6-9bbe-d13c6f01bee3 CLINVAR:986458 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d654d36-83d5-4c72-922f-70c5ed8ed405 CLINVAR:693516 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0374d60-754b-4f4f-977b-ec0004871b35 CLINVAR:693516 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5551c272-4b4c-4c4d-a8a3-8cb46688cac7 CLINVAR:9715 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ea095b3-865f-4706-b2dd-24b61f91a208 CLINVAR:9715 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ee92c55-e855-4b8d-ae80-7d6132a2f961 CLINVAR:65518 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b76b91a8-8638-491f-b19d-f8479304ccfb CLINVAR:65518 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f30a0e58-64ea-4001-83a9-3ee3a8e88549 CLINVAR:986454 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65251000-cbee-4d21-91ba-bcc5467cea61 CLINVAR:986454 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f28f90a1-2f9d-427f-889b-52f415196656 CLINVAR:11505 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fe070b7-3233-4d0b-98f6-6e90cce823a0 CLINVAR:11505 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 105043f8-7ecc-4a17-8874-0666487691c3 CLINVAR:929426 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b33b5d4-f54f-4455-8381-917e63bcf715 CLINVAR:929426 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a8cb46b-db3d-41be-87e5-41b4fb584205 CLINVAR:489299 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 337645d6-568b-4044-bbd2-0284c50f26de CLINVAR:489299 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77959c8f-cf8e-4945-a34a-b6d6e1eb5965 CLINVAR:643438 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee87b42a-72ea-4a0e-bce6-5d4a0bbfe2d4 CLINVAR:643438 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e71e384a-fc1f-41af-9383-e9657106e738 CLINVAR:487576 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 994c5de3-b4a3-41a2-9c8b-dcb989633472 CLINVAR:487576 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce37d790-2a80-46c2-bde6-ff8b8275be9d CLINVAR:143749 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87fd832e-1459-4f62-97ed-75956488f361 CLINVAR:143749 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a970529-fe79-48da-b31a-db2242b11f57 CLINVAR:156615 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 386262d9-d8e3-476c-af9c-1289257c10e1 CLINVAR:156615 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64133beb-2adc-4e44-a26f-d8eb1fee6861 CLINVAR:143754 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd5c9919-6e84-4305-8303-7450b62164e0 CLINVAR:143754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c37fa8df-734c-426c-a6a0-e864023813f2 CLINVAR:133026 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f145ca1b-13e4-4b3e-b532-0fae0a702543 CLINVAR:133026 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc3a3a2d-e8a9-43ab-b8e6-2420fcb3f86f CLINVAR:650932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e5a144e-6cb0-4e3a-a4ee-78a048c008ca CLINVAR:650932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12a4608e-8045-43d9-9a6a-cd8f6819a958 CLINVAR:65996 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 976229a5-4a6f-4725-b80a-93e3a40ebf78 CLINVAR:65996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c453f397-b5a9-47ea-9c72-c18c3e38cfe3 CLINVAR:803557 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a83bcbad-5434-4b25-b521-73938f699243 CLINVAR:803557 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb506a8e-c1ef-462f-a6c9-de0c13d1f932 CLINVAR:133027 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e558fe9f-5ac2-4d90-aaee-c39fb33b3512 CLINVAR:133027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aa17503-7edc-4954-85e2-6d09d31bdf91 CLINVAR:590582 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5dce8855-055e-499a-946d-e94e20da74b7 CLINVAR:590582 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09d00d08-c9e4-417c-8666-7135066beaa9 CLINVAR:803555 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c62b47dc-7734-465d-83b2-836d1d68b2a2 CLINVAR:803555 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b254b296-5d0c-4d3b-9d7e-bb6f88ec429e CLINVAR:133203 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 405bf4ae-9377-4f0d-b4ec-fc288e5ca30f CLINVAR:133203 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8d72402-f9f0-4a9e-901e-9a61058b63b2 CLINVAR:803556 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c2495a0-a6d6-4cea-97ef-549a62b7d9c3 CLINVAR:803556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 562f0cdc-1bd1-4b1f-b3cb-96e738471181 CLINVAR:938242 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db0f9ce6-2bde-40fd-9523-1de1dc29f568 CLINVAR:938242 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb81a32-280a-4beb-849d-43722ba7d029 CLINVAR:4021 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d140241-b9b0-4d2f-9954-8b788077d723 CLINVAR:4021 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b28a71b-c983-4763-a33c-1e4dca4f7f77 CLINVAR:456391 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9e24e27-2bbe-45f4-b302-fa411678a19f CLINVAR:456391 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eddc8864-8bd5-43d9-9e86-996371ff483d CLINVAR:286469 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 151d75f5-beae-44d3-bfee-b711952ef4e2 CLINVAR:286469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c172dd9-8a48-4ee6-bd68-49ba8f37d5ab CLINVAR:371226 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb27e5b6-f981-407f-a1d2-9dd178c5b741 CLINVAR:371226 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c4e4e0a-8db8-4387-ac66-373004470d74 CAID:CA658795267 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4cd6183-1534-4abc-b3d1-1389a6530e85 CAID:CA658795267 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6f725fe-cb8f-431d-b642-9886da755573 CLINVAR:188786 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1d0a1e8-8c14-4f12-bb9c-85d9b383a8b1 CLINVAR:188786 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 295a6394-cebf-4c16-a863-7c2ab722b18a CLINVAR:935199 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1bcf583-0810-457b-ab71-0147e71b1ab7 CLINVAR:935199 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bcd0d8a-5147-43ac-8dc1-10d5afa9c542 CLINVAR:392862 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15887e33-15e1-43b7-a57d-194a1ea803c9 CLINVAR:392862 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1739c2b7-255a-423e-b10a-afe6653eb37f CLINVAR:432217 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de640914-332f-41ab-8cde-47e8a71ffbd4 CLINVAR:432217 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0304e984-ff77-40b3-a376-cc9e2a2dc013 CLINVAR:552527 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62ecea54-07d6-4a94-bf10-98da6d6be521 CLINVAR:552527 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ebc8b2-f944-45e4-9e93-40cc0ce8941a CLINVAR:843677 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f2e3e4b-b0f2-4420-8dbd-6f19afcebb0e CLINVAR:843677 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc7d1753-3910-4ccd-94ea-e2719eff66ad CLINVAR:554339 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9aeaa857-26b0-44c9-a0d7-3dd9696818a8 CLINVAR:554339 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deff029f-c280-4a8e-8662-7d70d2ee1afc CLINVAR:856881 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa92f08c-aee7-4458-ae56-e2cea3c99f95 CLINVAR:856881 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d16b69a-c0ab-4131-8bfe-ed00d160f473 CLINVAR:1073045 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 064d7b66-d035-44aa-82b2-09eb05b93ce4 CLINVAR:1073045 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ffe6dde-9e42-48c4-8ca2-de976960bc6d CLINVAR:618506 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8392eef8-0bd3-4bf7-8b0e-3170d3b0e2f7 CLINVAR:618506 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 958fcfa9-8ddd-451d-8b69-d453e253a45a CLINVAR:846935 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03382d94-9880-4f69-899d-171a6ba428ef CLINVAR:846935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1864a4cb-3618-4ca3-bee8-d48f569e7cbb CLINVAR:1626 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78d55c08-0633-4842-a4ac-eccfcfa3b9f6 CLINVAR:1626 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29417239-d4f4-4127-8607-09db3b1717d2 CLINVAR:422995 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24a7c63a-1641-4ade-a6b0-28856cf69363 CLINVAR:422995 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc0213c2-8e99-4bb0-90b0-582585d72188 CLINVAR:932787 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac5db3c9-11f8-4a14-8dff-3e0e9a676866 CLINVAR:932787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c052d998-7dfe-4b80-85d0-ddc1f9d60050 CLINVAR:370686 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97c7d8c9-350f-46a0-9391-ae374bc6c7e9 CLINVAR:370686 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a19d1339-6113-4d53-8442-fce50c2c8b82 CLINVAR:203580 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0407dab-c3c7-4943-9bea-8f86f4d07532 CLINVAR:203580 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3da5a79a-28e1-44d5-9c79-2da7f97451e5 CAID:CA397724300 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7ec1019-af4f-4263-ae59-0c8653f14e00 CAID:CA397724300 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85d89b96-ce4c-4546-8ac9-382f88d2909d CLINVAR:166638 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af9ea122-c88a-4beb-84b4-381cfb3faa2b CLINVAR:166638 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d9485f4-27e1-4491-af36-6155c59d6d5e CLINVAR:557575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2375d4b9-6233-4394-be03-a083ce6603c2 CLINVAR:557575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 724a24cf-7c89-4148-b223-77018a2c84d4 CLINVAR:370482 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6dbe4d92-223c-4680-9019-3e7746dece29 CLINVAR:370482 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af671931-cd2b-454b-a82d-8b12be62f950 CLINVAR:567061 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f81705b-e7e8-4a58-9be3-183e9947e60a CLINVAR:567061 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c360fd2c-714c-4828-8f96-33d2ec251243 CLINVAR:203593 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb6796cd-896e-4c3c-8b9f-b4856ba31682 CLINVAR:203593 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fc36bc2-208b-4aa0-9834-7281c1af600e CLINVAR:581398 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe7a6ec3-a509-4e49-aa5c-76fe1f9d00ad CLINVAR:581398 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eed618f2-855b-4d7e-bc8b-4a3a304ceb5f CLINVAR:932848 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 958b7690-2a0e-430d-be0c-3e3bb2d247c6 CLINVAR:932848 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34bb906a-be97-404f-b694-f9ce54513e12 CAID:CA8337657 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc4a9bce-4f0c-4eeb-87d1-9d8a0e3c1a75 CAID:CA8337657 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7d76fdc-abdd-4460-b8fc-555a9bdd7de9 CAID:CA397722888 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8469b148-7306-4937-ace2-094ed488b3a6 CAID:CA397722888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2ae4378-828a-45fa-83b0-03b2488e88c2 CAID:CA397726273 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa7be16b-c6c5-4939-9b3f-1a90f434dd04 CAID:CA397726273 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36040b18-7750-4adc-82f0-4419e954a335 CLINVAR:193541 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c516ce7-f8db-4007-94d2-4dce56184281 CLINVAR:193541 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30953f84-9b97-43f2-ae68-45043ed13d20 CLINVAR:203570 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d7d8242-a338-4336-9dca-5657f9bb398e CLINVAR:203570 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b98fcb6-dea0-40ed-8845-91176fa63856 CLINVAR:254700 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b682be5d-0143-4396-99c1-8e822beede0d CLINVAR:254700 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9775427a-d48e-427f-a2db-68c2fa44fbc4 CLINVAR:553583 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5326885-251c-4db2-8455-c7738a4c752a CLINVAR:553583 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e8143d8-b96d-4040-ae6a-533457aaf257 CLINVAR:216422 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 158f7cae-3c62-41a0-bc94-e8a121ea6966 CLINVAR:216422 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8127020d-ecb9-4c4a-a65a-5fb35b8156c9 CLINVAR:279878 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ed63da6-3550-44b6-9159-a91d14b8c46d CLINVAR:279878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a926d6c2-93c9-4ac7-a367-fc08c31f7c9b CLINVAR:420491 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08bf022e-a5b0-42dc-b863-7dd16c0fb53d CLINVAR:420491 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37a1abf7-b982-419d-9192-2b1ba117943c CAID:CA346124255 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c20add54-4d78-499c-bc75-ac38a22e7fb1 CAID:CA346124255 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c34210f-2398-4b42-8dac-b32f1aae8f5a CLINVAR:370279 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8a563d9-c2ed-4037-950d-a67cc8952487 CLINVAR:370279 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7842a61e-31bc-418a-b558-8e49a86c6341 CLINVAR:412802 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 225783e7-59e6-4299-91e6-2c2f23166edc CLINVAR:412802 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 216b483f-1794-4e8c-9b1c-90da51f635c0 CLINVAR:127676 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcb22b67-19a1-4c7c-aabd-95ad88f59da2 CLINVAR:127676 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e219d216-a9b7-48b2-a9e4-576e9aa75e02 CLINVAR:127682 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3b92243-60c0-4a08-9f31-7885152f529a CLINVAR:127682 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d38788af-ff64-4a20-a4cc-bcb6ebb9ecfd CLINVAR:234695 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c77552c9-99e4-46e6-844b-47994c2a3231 CLINVAR:234695 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe6bfaad-0a67-4b9f-b1bf-3b5e66487399 CLINVAR:468719 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42a61e50-a572-4ed3-9d0f-a947abb5415f CLINVAR:468719 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3bf9b6e-4536-49f9-aefa-eb1857d4db69 CLINVAR:141717 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6246b59-b2c4-4d71-9b06-084042489af5 CLINVAR:141717 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 385a1952-ee9f-4e83-b0d6-38d441ecdd76 CLINVAR:404144 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a077c61-ad7d-48a7-bbd4-73ce1dd56cfa CLINVAR:404144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e98a5fae-c7dc-4017-832b-e79cb6db5ef7 CLINVAR:140783 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b727e17-e08d-40a5-83f3-a6ec4411860e CLINVAR:140783 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 085ff5ff-b79c-47d1-b703-a913ab2f6ad0 CLINVAR:825730 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcb5c377-63fd-46f2-a103-819c22ef6a28 CLINVAR:825730 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e76e78e-0a13-4871-b7df-5fe58ff196fa CLINVAR:428199 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85815b19-282e-4dba-9810-3b07c6d28fab CLINVAR:428199 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d497a981-c9aa-4fff-bdea-32b1e3121ba1 CLINVAR:644390 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25f375bf-70e6-47c7-bbbf-80801395facb CLINVAR:644390 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf5fa6b0-4be7-4bea-9b29-a3fde3719d75 CLINVAR:224542 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69bf744d-bcd2-4eb0-8887-821d44898380 CLINVAR:224542 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afd02306-236f-447c-822e-6268da3ba062 CLINVAR:619908 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6dad564-04fe-4101-b2d5-c9ab6b598e63 CLINVAR:619908 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 137ab8a7-e94d-438c-81e2-4c94a160965a CLINVAR:484605 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98475dcd-82e3-4145-ae83-a7e57810ce4d CLINVAR:484605 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f383a83-b02d-41ed-9485-e22a61f22b94 CLINVAR:492332 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11e479a6-dd57-4601-aaf1-8a01a46908e9 CLINVAR:492332 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 387cf1c8-6cda-486c-844b-8fa2f7cc6ca6 CLINVAR:316208 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fbbe041-6144-4819-8efa-f33905aff90f CLINVAR:316208 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af8fc6d1-121d-4d41-9e84-97c193f57c2d CLINVAR:589915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79c9740b-d042-418c-b373-b77922062327 CLINVAR:589915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc9b0adb-16e1-4ba0-ace6-7b47074ad841 CLINVAR:598112 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5de40b53-7be5-43b2-b471-2d2ae1bdb8f6 CLINVAR:598112 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97ee1c7a-64aa-4148-af24-99c33bbf52c1 CLINVAR:625953 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74d774ed-b6e6-4913-afe9-788c4267b396 CLINVAR:625953 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29922bd9-b8a0-4f54-9d3c-64e56392e320 CLINVAR:570204 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 898c4ff2-bf67-4b17-abd5-94ca722c91c6 CLINVAR:570204 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cafb659-5144-4591-a0a5-fad2048821f5 CLINVAR:654184 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98695b9d-0cd7-4226-a5cb-8ed029c3af25 CLINVAR:654184 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fa19b81-16d5-4ad9-ad30-d750ae5946db CLINVAR:316210 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0970974e-3f60-464b-8155-583b4b9d67e8 CLINVAR:316210 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a9c7c34-bae3-4b1b-a606-5ae63951ad34 CLINVAR:55918 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7eb7829d-1393-4dce-ac26-234ef20d5606 CLINVAR:55918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a9e2f8-be75-46b2-b587-cb7e899bbf64 CLINVAR:205617 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25b66ace-1932-483b-be6f-d274871be3bc CLINVAR:205617 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f068900-5bcd-40fe-94c9-da906e6e73a9 CLINVAR:55919 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bffd1f64-93cd-4fb8-9291-792f8b63b72b CLINVAR:55919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6afaece7-f3f1-4188-a24f-4de7f37760aa CLINVAR:7302 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65af4f55-262e-45cb-8761-b8c69478041c CLINVAR:7302 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0998a3a7-9afd-4724-8da1-e45822833f84 CLINVAR:55921 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 567eb574-dfb2-488f-a24f-3ee362babb9e CLINVAR:55921 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bab52a9-102b-445d-bd5d-007cb0629949 CLINVAR:21299 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6252afbf-d8ae-4812-80bb-4fc636e2f793 CLINVAR:21299 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 055d9cf4-1f70-4089-8b9b-6bfcd85f3d25 CLINVAR:572733 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen faeff700-0e0f-439f-9e52-b208330ab2aa CLINVAR:572733 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2188c0a-8ab5-4ba7-a014-2bb600d3225b CLINVAR:21065 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8170398b-bfb6-478b-bb52-f8b8bef1e1c7 CLINVAR:21065 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1f447ab-f587-47f3-9d80-4ed566e52c9f CLINVAR:205596 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abd3bb6b-3b69-44a0-a739-e312d61bfd6e CLINVAR:205596 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fad6c49-ad1b-4318-be85-fccbda0597cf CLINVAR:544252 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a05aa6dc-0019-4772-b46a-80c7820c7818 CLINVAR:544252 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96fdc9a6-dd69-423f-8b38-d828713adfa7 CLINVAR:205595 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55510642-eb35-4625-90da-52aa02d10feb CLINVAR:205595 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e9f9458-9b44-4278-b151-583a60155017 CLINVAR:205594 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4c8e02e-d571-485b-b23a-45e695d11c56 CLINVAR:205594 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5aaf233-85ec-4bb8-b24c-cb5b85e3c65b CLINVAR:445930 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8aca8080-0cd0-4e06-b6e0-1fdb834ee562 CLINVAR:445930 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4000c45-09c0-4136-a8a3-ee8539fecd18 CLINVAR:205569 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c21a46f-cef5-4739-97cc-59ea7eb570d0 CLINVAR:205569 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 028e76c3-84c0-4775-82bd-e814e079c0b3 CLINVAR:205592 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df9cc93e-db7b-4dcf-b77e-36b581d86303 CLINVAR:205592 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b3011bc-b66b-4445-8981-1e7b9553afc7 CLINVAR:577478 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b66eb8b-9b34-469e-bf52-1f58d3f8d062 CLINVAR:577478 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 609e637f-9f01-4df9-874e-c4d12e7bde49 CLINVAR:544261 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cb81235-a6b7-4365-95b2-ebf9ec429686 CLINVAR:544261 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ef9bec-498d-489b-adc7-0e377009f8b9 CLINVAR:205590 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a79f770-9565-4bdd-9e9c-c723402d61d2 CLINVAR:205590 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a6c4441-9b84-499e-9a3b-e210699a28b3 CLINVAR:205584 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a331606-84d0-4ccf-959e-a6d5a5f7ed14 CLINVAR:205584 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9be41763-b8bf-4b57-98b9-7688a991cdc1 CLINVAR:431959 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a27990b-788d-4fc4-b3dc-d2a06599c5c0 CLINVAR:431959 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d1e1e9-96d0-4404-8437-e8fc675c6060 CLINVAR:495685 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa1a9f7e-80ac-4274-9c12-dc335769674c CLINVAR:495685 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfa83b96-b67a-4807-9ccc-1f4041d4a1bf CLINVAR:205581 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f9a9b1a-2e5a-4c1a-884c-52445258c2c4 CLINVAR:205581 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 604c7efd-748c-41f5-a7ed-f8b8011eb1d3 CLINVAR:513151 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fd424f2-d00f-422c-80ac-4c9a4550ffe9 CLINVAR:513151 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06c6fa5d-9338-46b9-94f9-1e09a3ae511b CLINVAR:225369 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a09fd549-5786-424f-9225-b41318282a38 CLINVAR:225369 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a128fef-3201-47e5-9771-cb118c807f20 CLINVAR:664123 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74616452-1b48-473a-aa1d-c74cd9d2f378 CLINVAR:664123 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf88b8dd-38ae-483e-aebd-8a92175ce341 CLINVAR:205580 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ae0f653-b098-4ec2-921f-b268b9f8f079 CLINVAR:205580 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c806ce4e-06e3-49f4-a7b1-1cedbbe4967c CLINVAR:566624 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bddecf9e-f943-4fa5-9a66-908e52d42afc CLINVAR:566624 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a9148b3-b47e-43d5-a438-c0327a5cd8f4 CLINVAR:8302 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7050a6e-9a39-45c3-8d8f-6b136ceb2bcd CLINVAR:8302 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17572172-73ed-49d6-9199-01fe1c6f46e7 CLINVAR:21066 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 182e1959-ecbd-4f9c-a0f2-00341493827e CLINVAR:21066 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3614da2-1a5c-47ec-a35a-cc090654c7c9 CLINVAR:666596 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7c15a35-d5a1-42de-8855-60d4f1fd2642 CLINVAR:666596 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7043288b-00ba-4346-8b27-6969476943d3 CLINVAR:666588 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d4ec7bfd-7315-487d-96c1-4c0589803a62 CLINVAR:666588 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2bbc37e-840e-4a8e-84bb-a5f07cdca245 CLINVAR:392671 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2cb06dd-eb99-41c2-a78d-0a34b9668f0e CLINVAR:392671 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a51032f-e294-433e-bba5-0e1304a829be CLINVAR:533702 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7dc50b8-9844-4d8c-ad7f-ac2e69c83277 CLINVAR:533702 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0fcaaf8-ce83-4e4f-9088-aa2bc0a3dd4f CLINVAR:655315 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82cdf2fa-745d-4b01-9865-bb6de673b6cb CLINVAR:655315 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e891e0fb-a6ca-4c5f-b52a-e04f8db3a380 CLINVAR:432463 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90c7dcc4-f5cf-46a6-9f08-5e6c4666e5f6 CLINVAR:432463 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae6a9e51-ded1-40fb-b13b-22dba565be1a CLINVAR:465148 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08e0b522-a5ab-42c7-b40a-a0a72147fda5 CLINVAR:465148 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a262ee22-ea04-48f1-83de-381c33ed8728 CLINVAR:643295 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91117eb2-1139-4742-a299-c545c3c840f2 CLINVAR:643295 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45fc320c-0cbb-447d-8da5-9ac80fa771bb CLINVAR:650071 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cce63357-1fd9-452b-a62e-eb9036347127 CLINVAR:650071 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b684f114-74cf-4f39-88f1-1c2b18d8d8ca CLINVAR:572616 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a422056e-1381-4eb6-9150-c6ca5e8788ab CLINVAR:572616 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c71aad94-72b5-421f-99fe-9c726814e089 CLINVAR:410221 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87c9ac66-919b-4846-a8c9-4ac2f4a47318 CLINVAR:410221 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79657c1f-7555-4a06-a31c-4d20108f7e76 CLINVAR:658337 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef096129-f963-4e05-8519-155846730779 CLINVAR:658337 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e833490-eff4-4bcb-bf89-3cab8b7d8278 CLINVAR:21448 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d76ca7e0-f491-4637-a1f7-4635aad467b5 CLINVAR:21448 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05eb0c78-e330-4243-8301-778a78b74604 CLINVAR:652028 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8867a47-bcdb-45b0-bb7e-4a7802032e4f CLINVAR:652028 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebe7f580-daae-48d9-8979-6b54e3e536c0 CLINVAR:449366 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 301dc216-f5f1-4a23-ae17-6ad543adf9b7 CLINVAR:449366 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2080845f-7352-46a1-ab32-1681b2604174 CLINVAR:635461 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cff1410c-011f-4524-9081-65a34865571c CLINVAR:635461 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7c11d27-348f-478a-95cb-33c87e1d975a CLINVAR:452407 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bcbd27e3-0942-4825-a7cc-c0a086e53abe CLINVAR:452407 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e70df743-d54d-417e-8018-f66485c4226f CLINVAR:416002 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d81888b8-9958-4ded-9e72-3f6ebfdc79c6 CLINVAR:416002 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ec36318-109b-4e35-b2ee-0b5131bbda62 CLINVAR:633583 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c15791c3-fff4-4b33-952f-6147d6eb0949 CLINVAR:633583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4689501-2686-4817-9875-5c084fd710ab CLINVAR:586615 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30cf1682-5253-4c65-bef6-2552e0c0bbbd CLINVAR:586615 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86bef524-d97a-4ac6-a39d-a02f9e10571a CLINVAR:21017 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1022e6e-b6c8-4478-89f4-d3261b0674bb CLINVAR:21017 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a055765f-d0de-4406-8c87-ac1c4c10df28 CLINVAR:92276 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd830532-a206-4d6d-94e7-374a1c284749 CLINVAR:92276 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fa4e24b-1f75-4c23-b1e7-fb15d70cb76c CLINVAR:986472 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d0ff9a1-cf32-4ad6-8722-0cb1c0d18c97 CLINVAR:986472 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fdb1e99-12f2-424c-b1a6-a826337b0b90 CLINVAR:9632 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 834c0d0c-eff3-46b8-ab45-691f947b6e0f CLINVAR:9632 biolink:is_sequence_variant_of HGNC:7470 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47848cb8-496d-44bc-a4b6-60b60d03c826 CLINVAR:9606 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5810a468-da62-482a-8869-09147c7de38e CLINVAR:9606 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd4456cb-da65-4636-b15d-c3fb38eef386 CLINVAR:689875 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 602ee59a-abdc-4901-a43a-99d555e20ebe CLINVAR:689875 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0841e383-261c-4766-9714-5100487fd140 CLINVAR:9556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5a8a244-0cb1-43bf-b789-32c947b437b3 CLINVAR:9556 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08cafe5a-729a-48a5-a68e-09facf3a6f1d CLINVAR:223247 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17e6f140-eae4-431c-ba2d-be56df9d06f6 CLINVAR:223247 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de70307f-24c5-401a-9615-1fa23d1e8765 CLINVAR:9707 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cc0fc2b-1b0c-42fd-8167-e336c768d727 CLINVAR:9707 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f563e1c-e721-4cf1-b33f-0d8d68849b91 CLINVAR:9591 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b85a5c0c-aefa-4e8f-b64e-db637b8d9177 CLINVAR:9591 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d458ecd-7548-46b9-b3fa-0aea3154f7a1 CLINVAR:102551 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 180684e2-7544-4729-b749-9c9c617dccb2 CLINVAR:102551 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcc07b89-17e7-47e1-8f81-7e30de538183 CLINVAR:102652 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 156910aa-2e6d-46f0-8272-5ba3acaf9c25 CLINVAR:102652 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b454325-ced7-4963-999e-02c61f344a0f CLINVAR:102663 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d04dd6bd-b183-48b9-b3ed-b0528cdd86f0 CLINVAR:102663 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45c99565-5338-46b4-8a6b-4bde84118a2c CAID:CA16020977 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b39ed97e-c17c-4c87-bde0-d5e18451864d CAID:CA16020977 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ce6785-9752-44e1-9d8a-31401e5124a5 CLINVAR:102718 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eeae482c-4751-465e-b998-b747a32aad31 CLINVAR:102718 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c4fe39-e663-4ab1-bc37-04ee30ab3661 CLINVAR:102664 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 423c0ab5-db69-4d48-ba92-dcf33c97ca47 CLINVAR:102664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5674e4fd-a37f-4edd-8b33-5c5f919279d1 CAID:CA386493311 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f0d66d7-b73c-451b-aa3a-cb55b5bed6c9 CAID:CA386493311 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da335b93-63b9-4792-a547-47d6388e8746 CLINVAR:657348 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7155aba-421e-4192-98ad-50db08c7f4de CLINVAR:657348 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd827a0b-694d-4eb9-be20-eebd60dcaab1 CLINVAR:431990 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b46ff8a8-5cd3-4c43-a853-3e1b6b973ee8 CLINVAR:431990 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb78d7a1-b368-4142-b06d-62250cef8fd5 CLINVAR:92483 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64c6b7c7-0075-4bea-a536-254118f2ac6e CLINVAR:92483 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1eb491c-b852-40ea-951c-908c5ad7f840 CLINVAR:498117 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 753093d4-237d-4198-9506-7cb7dd46212d CLINVAR:498117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b8d8e3f-f2b6-4471-9a80-35023c2ccc5a CLINVAR:370130 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2cd395a-a4a2-4a30-a7e6-26592f7eb713 CLINVAR:370130 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fc7b221-b6b8-44dc-9b59-a046fe4a47cb CLINVAR:933090 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 763d5d71-52e9-4493-aadc-0885ed6c78f0 CLINVAR:933090 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36e3ff62-e543-47bc-a901-63149139cae2 CLINVAR:690461 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf3a9917-2c5b-4879-831e-4ad4d219c25d CLINVAR:690461 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2df3971c-2ab6-45d2-986b-06ebd396ad54 CLINVAR:1722520 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fee9095-6d58-449f-804f-e61fddc9328c CLINVAR:1722520 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17b7d3ac-b259-4e99-8dab-3123ac01bf7e CLINVAR:479636 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5788e0ee-03ba-4f70-ac0c-f3e720df5773 CLINVAR:479636 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cee1e7f-0dc1-4be4-96bb-9ff9c52eb543 CLINVAR:429125 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c81bd7fd-db6a-41b2-bfe7-271bd6437bda CLINVAR:429125 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfec129c-e93b-4903-9322-2f41cbc7824d CLINVAR:824918 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 705c0e22-0541-4dea-80d2-2c665613937b CLINVAR:824918 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5808162f-08a8-4997-ab63-a0c0c2b98dda CLINVAR:1722521 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 473cd62a-8ec3-448b-bb38-4dfc632a2f96 CLINVAR:1722521 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb6ae755-4bc0-4aa5-8caa-e1f682124fcc CLINVAR:1722522 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f34aa4d-3306-4da6-b505-fd4a6696b367 CLINVAR:1722522 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f07f608-3474-4263-89cd-6e54291ab82a CLINVAR:825925 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c13a72c-ec8c-4563-a7de-0ca7ee9afb94 CLINVAR:825925 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f224ba8-85ed-4abd-8944-5f8408b663fa CLINVAR:653922 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52148c21-a2ae-49b5-a41d-939a4eb50c42 CLINVAR:653922 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2ff6395-4008-44ca-9364-0818953059a7 CLINVAR:933126 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51692e46-3e59-418d-9fd2-5a3b2d13ee12 CLINVAR:933126 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3197b707-3674-4993-ab48-616f294cb16f CLINVAR:825934 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e95d1f2-7be5-4651-9f28-53d429b2735c CLINVAR:825934 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 837c1ede-c2d0-420a-90c4-7a515fbb142e CLINVAR:1723160 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64778d1b-9b49-489f-9dc0-f17f1b7dd44f CLINVAR:1723160 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2974862f-ca30-4b39-9df2-465272624c86 CLINVAR:1723169 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe51182a-8ab3-4eeb-8336-f3e4ddb11d29 CLINVAR:1723169 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ac863c9-f90f-41bd-9ccf-0fb5b18a6c08 CLINVAR:1723171 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f491c4c-97be-413e-84b1-b704e13177c8 CLINVAR:1723171 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c707b32c-34c8-4498-977b-2c8e512958cd CLINVAR:1723172 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b05b8e0e-3ba6-4215-ba52-731f1936797d CLINVAR:1723172 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 525af69d-fb59-46a2-a302-2492565dab5c CLINVAR:1723174 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72b718cb-8e82-427d-af4a-1a08c59aeac7 CLINVAR:1723174 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74f50667-8ac7-49d2-b3e5-88e802435485 CLINVAR:1723161 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ddeca42-2444-4880-9fd5-4055756ffd53 CLINVAR:1723161 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3775f0b-da5b-464d-90c1-0c19ced1f1f5 CLINVAR:1723162 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef52c51e-20a2-4f29-90ae-810fc0defd3a CLINVAR:1723162 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9892c286-3222-4ac4-8e43-98523dc17573 CLINVAR:1723163 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c4bdd1c-b8ac-4abf-bf79-fdfe4cfe04f7 CLINVAR:1723163 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2f6fe75-a0cd-456a-bd0e-081b14d6dc05 CLINVAR:1723164 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4931deb9-e597-4944-b836-370c747fa579 CLINVAR:1723164 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38cdd121-8c43-42e4-b202-6e5744c01c10 CLINVAR:4036 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 655a6f81-aa03-4a7e-9463-04479b7dc4c6 CLINVAR:4036 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3d12050-8b26-4a6b-b9d6-17229f1cbc2b CLINVAR:550327 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 061511dd-2ebc-40c8-913d-331a5ec651a3 CLINVAR:550327 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0840fa74-cf4f-4aad-a333-63dd1ccec8cb CLINVAR:526518 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37a4ae82-23d5-4522-807f-87e04f044524 CLINVAR:526518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f155832-cc38-4ef7-adce-2a705c440521 CLINVAR:289361 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f9110dc-a833-4163-8cf2-6d039e576300 CLINVAR:289361 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ece657bb-3954-423b-8746-00758feb2a5b CAID:CA915940949 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18d8ac15-2a5c-499d-9d46-24413664dd44 CAID:CA915940949 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf3bb5de-aa56-4eb8-af47-6b5221fdb920 CLINVAR:200100 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b8965f0-db1d-4c3f-9600-2cf28cb60953 CLINVAR:200100 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49ed0f2e-9791-4440-896a-ad9c6078c7da CAID:CA392317923 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7831ca9-c203-4cd8-a7f3-03e0ada818e3 CAID:CA392317923 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac322241-2d1d-44ba-9949-bba443ccff2d CLINVAR:200041 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d47deb36-d3ea-423f-a22d-956dbd8f91d5 CLINVAR:200041 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c31cd145-06b0-4137-992b-9e84e936aa9a CLINVAR:1325453 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84f1b241-5731-44c6-bf02-2912cd722109 CLINVAR:1325453 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a6fa90e-4dcd-421c-8813-382048e67b82 CAID:CA392325153 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 110de3a5-fb09-4332-a29f-5200d9604193 CAID:CA392325153 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f8eac28-3bb2-4186-b4e8-5554a872feea CLINVAR:549232 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac9c674b-cb30-473f-b4c6-3e2340b2542b CLINVAR:549232 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6ed76c9-f4c5-456e-8b00-f847266058d4 CAID:CA915940948 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6c621d1-7aaa-457e-b9a6-8ecac69d6435 CAID:CA915940948 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7306fcdb-ef1e-49fb-a0ee-71a35e46df35 CLINVAR:161245 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df4ce259-1b83-44f0-ac99-03ac41eb8093 CLINVAR:161245 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2b9c125-9e52-4fcc-9fe9-31d599e11355 CLINVAR:549394 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eda32422-4928-48b1-865f-a038f0824c1c CLINVAR:549394 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e961a293-f48c-46c7-b353-3bde4175a034 CLINVAR:200064 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3fba283-9a64-4131-b2f0-d8952a6456ad CLINVAR:200064 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a0a9be4-72fa-456a-ad9b-d4cec540ccec CLINVAR:143490 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c0ff676-8bca-42ec-a168-5840129e9944 CLINVAR:143490 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e560bed4-71c5-45c9-9714-903ad080cf02 CLINVAR:143549 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 448a2bce-ca84-4412-aaa0-834f1a622134 CLINVAR:143549 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d532ff32-83ff-43e0-9193-43e6621dc4c5 CLINVAR:143550 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58670632-af74-45d8-96f5-9cb165293a0a CLINVAR:143550 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6d0a0a0-3ce4-406b-959c-6ff048b7412e CLINVAR:143560 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0afd493-6131-4cea-8668-755f3fac7591 CLINVAR:143560 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 312c775c-f1b6-4150-8e3e-0fa68e449772 CLINVAR:143585 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2e828e0-434c-4b2c-b312-84a512654913 CLINVAR:143585 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eb1faf7-9ccc-454f-8f53-df960765d4cc CLINVAR:143589 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc534c8e-0cdb-4256-88b7-5207cf6cefc8 CLINVAR:143589 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ef02c32-8223-41bc-8233-262753ca748a CLINVAR:143742 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf5cebcd-2274-4fbc-b72c-086d81594a3a CLINVAR:143742 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01faa43d-1f70-4f18-82ad-cc049cc39de9 CLINVAR:143340 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62c4ae6d-b8f9-447a-8432-013f2397b9fd CLINVAR:143340 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b927566-3b41-4970-acd9-a6c74d71a5ab CLINVAR:143656 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17b7548a-5baf-4f77-92f1-0740270a0458 CLINVAR:143656 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e1a8c7b-97b8-4107-a818-70d935a71abb CLINVAR:189732 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bcb3df64-080a-4cda-bb86-9ff739a94933 CLINVAR:189732 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4723ccd9-a22e-4339-b87b-3df7a027c404 CLINVAR:189754 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbb00b48-bc15-49fe-9d44-8e1baad96720 CLINVAR:189754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc532de2-c228-435a-8e44-2778a1647554 CAID:CA399802454 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20bfda54-0e24-4bdf-87fd-218b3faddc9b CAID:CA399802454 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40fa352f-dd46-4270-b693-76c47e5e0426 CAID:CA915940214 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74cb2325-15bf-46e3-8b4a-0c687f8a8e86 CAID:CA915940214 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c52f1f4-f949-4648-9116-0fd548a0b237 CLINVAR:1684418 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 193ce498-d75d-4a2d-adf6-d0626d6d7af5 CLINVAR:1684418 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ddcaf33-5fdc-4227-9467-5dcac83618dc CAID:CA915940264 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7477dfde-04ad-42cf-825e-573fff9fdf89 CAID:CA915940264 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c9c7ed-7e9e-419c-ab45-5ab9998ae716 CAID:CA915940225 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b48ee81-53cb-4433-bc03-ece96adac1ae CAID:CA915940225 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4654108-c35b-48b1-832d-3223ee064459 CAID:CA915940263 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af327cbd-6c6c-4898-af91-1ed70d349fb4 CAID:CA915940263 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54b33d86-2aa9-46e1-be37-59c529541090 CLINVAR:1879057 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c0e4938-ca86-4e5e-bb78-6d7ba0ce495b CLINVAR:1879057 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bca9c95-46ca-49ae-8047-57ff3dd1751f CAID:CA399805008 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 315afc6d-d6a1-4b00-a402-3d11065e049c CAID:CA399805008 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf07edb-ec9d-481a-a502-0fea5781ce81 CLINVAR:1703874 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7f9fcbd-e1e6-4ab5-8524-13fa44e8238c CLINVAR:1703874 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e45d8c0f-3742-4016-96ca-7ef599d43e62 CAID:CA8603099 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7f10858-26dc-4064-a704-ae25f0719765 CAID:CA8603099 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e8c9c38-c041-4ad5-8a1e-744f1e1aa0eb CLINVAR:13563 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1d612d8-8440-45b1-8b80-ceac8da2e82b CLINVAR:13563 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbff9132-e777-4ad1-b4da-0a8b7948a40b CAID:CA915940805 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de8ff89d-0bb7-4d79-ad82-ca271ba39f53 CAID:CA915940805 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5a6f1eb-42e6-4b6f-ad89-aa04896ea517 CAID:CA915940766 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfb1bc89-4faf-4ed5-a71b-72873eb99e3f CAID:CA915940766 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b95c362-47f0-4aa1-beb5-c333091c2ec1 CAID:CA915940767 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64d8680a-1d82-4e20-bd3b-103cd3adfb34 CAID:CA915940767 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8052fb2a-ea93-4300-aad7-8fe44cb444a6 CAID:CA399804480 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8611c6d8-c989-409a-967d-195652cbf1b4 CAID:CA399804480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ee94d4d-2c5f-435c-b319-7ffd37874d75 CAID:CA915940267 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60c74b79-594e-445d-924d-96c19b494c00 CAID:CA915940267 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8124c00-434d-4bba-8f74-6b1182197207 CAID:CA399798192 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 488e4126-af33-4f55-b8b3-e4782e62104e CAID:CA399798192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cadec561-7d9e-4c2d-8f47-7ec04ea46827 CLINVAR:1703869 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df5d63fa-fc6d-40b5-8cd2-17abbe570093 CLINVAR:1703869 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cab04a3-5591-4bc2-9c65-8454a0957724 CLINVAR:1879045 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 242a7fd9-a8ac-43b1-b2ec-cdea7df0c89f CLINVAR:1879045 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bcd9ce3-8087-4cd5-b0d9-ca9ef188d1f3 CLINVAR:1879044 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5bf3751-2e96-462e-a0f0-37a18a29e18f CLINVAR:1879044 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1596a66-6b1b-48f8-8f8b-a34afdbb279a CAID:CA291224896 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74f9604f-b39f-4d40-8cbb-f4073f10b658 CAID:CA291224896 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1c8f508-7f99-46c0-939c-49925154a18b CLINVAR:1879042 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0123a0c-cc16-493f-b431-feca4362fc92 CLINVAR:1879042 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efd6c18a-b99a-4d8a-a0d2-91e7749956ed CAID:CA400031679 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35bf793c-fa05-4a93-8477-d5206fbc6518 CAID:CA400031679 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d219ee1d-e469-43cf-89e2-77dce7c04974 CLINVAR:1879040 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c43edbd-b1bb-4dba-aab3-b65f78cb9712 CLINVAR:1879040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863d5dd5-ee48-40d4-8e79-6e1fa46f744e CAID:CA399806223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b12c7fd3-d390-472c-ab08-35ab3ef872ea CAID:CA399806223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8511d601-cf39-4740-b4d7-25f14a895398 CLINVAR:1879046 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2cf0c7d9-ce02-4768-aada-f77d504f39d5 CLINVAR:1879046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 028d5480-316c-4eff-94c1-ac02ff9219e0 CLINVAR:1879048 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2460e4ee-dcb3-456f-9046-20e299348b55 CLINVAR:1879048 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12deb286-60cc-4306-80a1-ae91e5de887e CLINVAR:1879039 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fd2825c-e2ae-45ff-9b29-ea688855704a CLINVAR:1879039 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f963d4b-7ab9-4658-adf0-703a7917b3dd CAID:CA399787972 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37847e10-313f-49f3-ad9e-592ff5934349 CAID:CA399787972 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8adfcbc5-a981-4e62-89bd-d80fabf2cea7 CAID:CA915940334 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d803c19b-eeeb-4116-9b45-b7905c2e3afc CAID:CA915940334 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e49beb25-5026-4788-8f64-1c72c47374d7 CAID:CA915940374 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13fae083-e005-4d98-af35-5dd24771c613 CAID:CA915940374 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 227c7f50-f204-4d43-8fdd-c61a240f2bf2 CLINVAR:1879034 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a5495dd-d9b8-497f-bff0-49bdb0b43ff5 CLINVAR:1879034 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a801f6e5-9e61-498d-b7cc-d45027e0d510 CLINVAR:627151 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa6488f5-d286-4772-b059-ef883294c8b8 CLINVAR:627151 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b31b06b-e078-411a-b04c-cbeb984eb673 CLINVAR:1879033 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52b3d921-69b3-40e7-a337-ad234baa7900 CLINVAR:1879033 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 424ac084-e60e-4a59-a0a9-201cb79e0065 CLINVAR:1879032 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fb4e5972-f52c-41d5-b9bd-127515518264 CLINVAR:1879032 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbbf3312-6996-4c38-9f9b-58943868cb3c CLINVAR:977126 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae73bb1a-6bfe-4030-88cd-6e49c2315eaf CLINVAR:977126 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f491acb-0658-4a2e-a0d5-13daec207d58 CAID:CA915940788 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcca98eb-ff98-4504-ba2c-f28fb512d7bc CAID:CA915940788 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eadfe739-1291-45dd-941f-8b1ac50ceef3 CLINVAR:1879030 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fc80400-861b-406c-9937-8380301b1769 CLINVAR:1879030 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e48bb42a-bd11-4448-9213-93e3a2963e4a CLINVAR:1879029 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd3b1988-4ec6-45a3-b27f-e1135eafe5e2 CLINVAR:1879029 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c82b7d29-dfb2-4bb6-bb94-2cafd1e8453e CLINVAR:977131 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2668cc36-2dac-4cec-8558-a4a7a34ba5e4 CLINVAR:977131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14baebcc-336e-4a81-b624-9da49813384b CAID:CA400031690 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2fec9db5-4beb-46ed-8495-818da9114009 CAID:CA400031690 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 785d91d3-9c32-4a77-987a-4ebbfbd0798b CAID:CA2573131753 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b69397c5-6cbf-424a-9e72-8ae46be39e69 CAID:CA2573131753 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6096805f-4e22-4223-ab53-8bae2146cecc CLINVAR:1879025 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04a01c57-1bce-47a7-abd7-3b637e6e087a CLINVAR:1879025 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a621047f-3eb2-4927-9297-04d76e2afa9f CLINVAR:1879024 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a09554b-6855-4bd2-bb46-9a15b6c6a6c9 CLINVAR:1879024 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39e6fd4d-78d8-4ace-925e-e3189cf1beea CAID:CA2573131754 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 244cc395-5bf6-4d5d-ac49-5df0086094a3 CAID:CA2573131754 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52e47a9c-2fdf-4bbb-8d18-8eb30ca2c85f CAID:CA8603039 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a929d90-d932-470e-b231-27e4868ca1fa CAID:CA8603039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c0d5d9a-5704-4f5d-97cf-85a0c6fc3920 CLINVAR:1879022 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fd7fb04-f05e-4aae-8c57-ff9604364a0d CLINVAR:1879022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d23e3951-4593-404d-ba27-64df72490c11 CAID:CA915940806 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5e2a116-39ca-4e0f-ade6-7227e2143cb3 CAID:CA915940806 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cabb8853-94e7-4077-b88c-7f19aba3c943 CLINVAR:1879020 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2240bef-a8d5-4f2f-985a-668f45223d2e CLINVAR:1879020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e06bddd1-8dae-4932-9627-16cddaafdfc5 CLINVAR:1879019 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b95e962a-6a33-447e-92b7-7b79b817dda0 CLINVAR:1879019 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5768e3e-4355-46c2-b25a-daad94e48815 CLINVAR:1879018 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22551243-34f3-4b0f-b197-49d316f82c30 CLINVAR:1879018 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd5d0f73-d11b-4022-8e26-a649d41c70ea CLINVAR:891157 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07fadde7-e913-48cb-8a05-80962276e08d CLINVAR:891157 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f7eb136-fd33-4496-87d3-71a74ff42f81 CAID:CA915940222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cea9a57a-0f16-4b8d-881c-3c90549d92c9 CAID:CA915940222 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2739c6e1-55c1-485d-9fba-24c49b24aa33 CAID:CA8623068 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e567323-1cf3-4b95-93f6-da7d59e1f4a9 CAID:CA8623068 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3386ac17-90e8-4de7-a39e-b4d1f231fea7 CLINVAR:1879014 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87431908-227a-480b-918d-457d53807cd2 CLINVAR:1879014 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99adffb9-4935-49b1-8d4f-78bff729a25f CAID:CA399802478 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02dfb273-615d-489f-a8f5-09f33cafa201 CAID:CA399802478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdf2d92e-db6c-4681-92d8-2675b5d5f9e0 CLINVAR:1879012 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ea6a4ec-b43f-456d-b880-7916127071c5 CLINVAR:1879012 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 555f2251-526e-4396-9197-39f3d4632f51 CLINVAR:1879011 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c66c1089-bb00-4334-ba75-61b978495903 CLINVAR:1879011 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95370ac4-246c-41e1-ba5c-8eb21411839f CLINVAR:1879010 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a42c71d-2eaa-4479-ae2d-5da835ad83f0 CLINVAR:1879010 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80a9488f-6b49-4ec1-b78c-a27b449cc7f0 CAID:CA400024958 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 882ffc5c-8217-4fc3-9338-ff114d2735bf CAID:CA400024958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af8452a8-566d-4387-9b15-fc27e651bf8e CAID:CA399806951 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c6dfac5-0ef1-4c3e-8ae9-759ec171fbdc CAID:CA399806951 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beda6828-5330-47f7-b627-987a55efb788 CAID:CA915940223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8faa571f-88fa-443e-8471-5a2a807d90dc CAID:CA915940223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c00e2b9-3681-4cad-930e-cd4215d53050 CAID:CA399792888 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd762d12-1ad1-439b-adb8-ba7eb8949486 CAID:CA399792888 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1f7da49-ec49-4aef-a4f9-47332ea824a9 CAID:CA400028645 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fffc9ff5-2436-4993-a4d9-bb217a93548c CAID:CA400028645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9677c512-845f-40b3-9919-5cdb4f1e5ea0 CAID:CA399802559 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 193f916a-ddc5-4ca0-82cc-7d2f59cdea4e CAID:CA399802559 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a08d34-1549-4bff-b00a-9e50df4b6f5e CLINVAR:100811 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf4a3ccf-2bec-4886-b31f-e0fa6d2b0390 CLINVAR:100811 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a364d2a9-4969-4986-9953-50d03f55d7d5 CAID:CA400029664 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 319123dc-2c2b-453d-9aad-bf9ac35f1fe9 CAID:CA400029664 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 790a5591-c528-453b-af1c-5ee039fed06b CLINVAR:1879008 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 768de1ea-494c-430e-b2d6-2fa2d0486a2d CLINVAR:1879008 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c656fecc-6f74-44e3-8b43-c35a3d6a3667 CLINVAR:225919 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a133a59-d492-4baf-a9e5-35562edde075 CLINVAR:225919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f97954f0-f83b-4f6a-802c-ebf9309ed11d CAID:CA6748745 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06376ed9-79e6-4e15-a944-a6667a6efabc CAID:CA6748745 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15a1cca2-41ac-4f78-8518-2fcd2e4e4a96 CAID:CA386299735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4989e010-3125-4e4f-bb87-5b137446444b CAID:CA386299735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4870bbe9-4fa3-4dfe-bc34-4f006ee14cec CAID:CA386297078 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb216d2f-74a7-4a9d-afe3-4c34d635a0d7 CAID:CA386297078 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac7d7052-9a01-409a-b0b6-befc9475f232 CAID:CA386492906 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e679751-fb9f-4829-b014-003eed3b0f89 CAID:CA386492906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3abadd85-69c7-4861-82c3-e23796b6bbef CAID:CA16020960 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e422e82b-f626-475d-96ac-a9c5d53baf71 CAID:CA16020960 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaaddde9-3e21-4cb6-807e-73046418389e CLINVAR:102564 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7126f0e6-b699-4fc8-9b29-fa502fd79cce CLINVAR:102564 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ba1d02d-8707-4080-9b5f-f59f43ce50a7 CLINVAR:102653 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bdd344b9-c4b9-4326-af27-abe395995e5e CLINVAR:102653 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ab2f2b1-5146-4819-836f-5f7b552697a6 CLINVAR:102574 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70370a88-42af-436f-b7f5-d4257a188c90 CLINVAR:102574 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ab4318f-2578-450f-94b0-08458e1c27c3 CAID:CA481331323 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09093723-a062-437b-a638-3dd4ce447285 CAID:CA481331323 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e802367-76c8-4a2f-ade9-480aa46fd8fa CLINVAR:102603 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ef511b9-7e2b-41f5-81c7-cbeccf474fa0 CLINVAR:102603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9de816a5-b8be-4332-8b14-6a4f91948756 CLINVAR:102730 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b79ebef-a765-4afc-8398-e6fc8c9dd33e CLINVAR:102730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6351ca1f-d0bd-4181-966d-5a3d8e055d12 CLINVAR:417917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81756e9a-e85e-4e8d-a26e-6e7b026b00ce CLINVAR:417917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d83bbd3a-5e2b-42ab-964e-347019572f0a CLINVAR:854401 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4fcceaf2-6ec7-4209-899d-8e090e7cc19d CLINVAR:854401 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f190bb3-c5cf-4dde-b4e5-628bca01c36a CLINVAR:474895 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4571c117-c19e-426a-ad35-4f31d6aa9453 CLINVAR:474895 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4929e22-f364-4b9a-9814-cc409d5f0007 CLINVAR:971356 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6650f687-defe-4c80-8691-d02f8e614e2e CLINVAR:971356 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 942c92f3-a808-42da-abc7-82cfa684eab8 CLINVAR:555644 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7fd9947c-5960-4f79-ba3c-5ad4e19ac1a6 CLINVAR:555644 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcabb326-ff8e-498e-9168-d16137a96d3f CLINVAR:661308 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb75ee55-2c24-45e6-815d-8967ae06c3ee CLINVAR:661308 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d4e4a4-ae12-4573-a4b6-f70e745886ca CLINVAR:1632 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df1757c7-2673-4330-85f2-77f6d5dc79b4 CLINVAR:1632 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea57f855-ccf2-428f-84c7-31bf5461eb29 CLINVAR:203592 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f00c8d2-b0b5-4573-b59a-dce474adcdff CLINVAR:203592 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45a31705-c115-4a71-88b0-4bee71743a04 CLINVAR:839947 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c946f6e2-ec95-4d24-923e-b9510102db5e CLINVAR:839947 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67bdfcd4-a3d0-4ca6-9bad-0adbabb28e36 CLINVAR:92290 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 060af25b-d1f7-4e18-8ef9-cf3bb29e15d1 CLINVAR:92290 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a524181-2451-49dd-8911-344b7565de64 CLINVAR:21016 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77bc8692-8a23-4d33-9b9f-9c4d6f181a80 CLINVAR:21016 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55486945-df86-4d6b-853e-6c890727cf78 CLINVAR:1634 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29bf176d-8160-4528-add5-3657b0c7984c CLINVAR:1634 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ffc3847-16fc-4477-b0b3-4e654162fcfa CLINVAR:21019 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ba5e5f3-7b48-44ad-9057-77688d17d17b CLINVAR:21019 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2581ef2-da34-4265-b684-b449129196c7 CAID:CA1139532270 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7879a0e3-fba0-4bd6-baab-90f6f4d8379b CAID:CA1139532270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 197a4683-f53d-41bf-94ef-d2aa63285e93 CLINVAR:166641 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65a0b94d-479a-48e9-9139-42652bc113e4 CLINVAR:166641 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99cc2fa9-aeb7-4c8a-b918-90f391893605 CLINVAR:807359 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4325a6da-70ae-4987-ae73-f5e3149661aa CLINVAR:807359 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ce4ea9b-4d5f-48b0-b59c-4611fcad4789 CLINVAR:370717 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b53a8178-2a2b-4523-a6e9-e4b18aec2866 CLINVAR:370717 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b64124-2d5e-445d-b9de-4251c9864235 CLINVAR:581080 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8feb587a-f9b9-4ac0-82cf-19e6c097011c CLINVAR:581080 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a80891e0-9acf-4827-8f2d-b79e9d77553a CLINVAR:92283 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7cb52e5-9b8e-4ee8-aebb-4bc0792e889c CLINVAR:92283 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcdaa0b6-f31a-43d6-874e-e8133ae00d19 CAID:CA916084367 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b6f5c3e-5f89-40c6-9048-637821e7d888 CAID:CA916084367 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5198b928-af35-4bbc-b392-37777756a493 CLINVAR:370770 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a408ad25-f86b-4dc3-9d13-d37052b78590 CLINVAR:370770 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cce1141-3803-4c59-84b3-75573a8d6999 CLINVAR:166646 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fec35e91-a286-453d-a069-ee62b9c69589 CLINVAR:166646 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633a4e9c-07d3-45bc-81bd-55b0301365d1 CLINVAR:932835 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08760be7-7f11-46aa-ab39-6cf1505bf39a CLINVAR:932835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dc87f75-d4a1-4133-bf96-5a928de5f29e CLINVAR:557136 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62de665b-1951-40ff-97fc-6a0bb8d650f3 CLINVAR:557136 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f128544-0b34-45b2-be49-18fc9d71afa4 CLINVAR:418698 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52a09e6e-1056-47c1-860d-69428211bce9 CLINVAR:418698 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b51a5a10-ac33-438e-89ae-2cc324d50572 CLINVAR:1075156 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb567641-57c2-4fcc-90e0-679ab8a7c00f CLINVAR:1075156 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e7e04b4-7d92-4131-bda7-dc46134f5c20 CLINVAR:1622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca7df419-0269-4497-b589-46b760805baf CLINVAR:1622 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00c438d6-14e1-4cc0-8f33-6ebb4cd1b639 CLINVAR:932851 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3412ae15-9b70-4602-ba61-6b8a0f1df39c CLINVAR:932851 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce6633b7-ad8b-4c52-aa01-e8dc45d560f2 CLINVAR:810875 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05732a2b-02ed-4fd3-ad43-37a2daa45d92 CLINVAR:810875 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bf36384-3896-4a5f-9761-3de5224622af CLINVAR:812785 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7a98917-d741-4e27-98df-1695ed299671 CLINVAR:812785 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 845a2d12-8fb7-40d5-893d-6abebbfc64db CLINVAR:203595 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5456fd3b-6fd6-4751-a8b0-3646f3697af4 CLINVAR:203595 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72be0a6f-5035-4898-946c-3a776ecb88d6 CLINVAR:932788 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79ea45d6-513f-4312-931e-26ced2dacfc8 CLINVAR:932788 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c16667a-669d-4757-9b63-1d2893812183 CLINVAR:439361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1545ca72-e181-4b1d-87f6-da35a5957af1 CLINVAR:439361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f99ea65-a0b7-422a-a9cb-90faf387b0f7 CLINVAR:1073505 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cea7a2df-33c1-4a07-950d-dc88613343e6 CLINVAR:1073505 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ca85ed-1f40-4170-a35e-b3acbcc33618 CLINVAR:876022 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df505799-4373-4716-a310-f434c8a00d2a CLINVAR:876022 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ddfed04-5b7e-457f-af38-67a932ae6aa1 CLINVAR:1810373 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3bd19fa8-9634-46d9-a145-83f0bda2f7b1 CLINVAR:1810373 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3680b4be-e8e2-4678-a58f-6392f5b81e00 CLINVAR:1810374 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6d061f1-6851-43f7-a4d9-239f18f8428b CLINVAR:1810374 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c658f8a7-6f48-49e7-b025-1d001f333516 CLINVAR:1810375 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 906c9b5c-fe40-4637-99b9-cdf080f690bc CLINVAR:1810375 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf1bb575-be56-4a0a-b121-50377bc14aec CLINVAR:1810376 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20671eea-1153-4cbe-aeeb-43b447196233 CLINVAR:1810376 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b20dd24-bf6f-4793-8d87-4813dc4edecf CLINVAR:1306862 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ebf46f1b-eaa6-47ce-9e0a-0ccf1f557a0c CLINVAR:1306862 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e3575d8-2f5e-4023-99ef-a662116ac064 CLINVAR:1810377 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 352f8c16-55ab-4620-91f0-ecf810f20cd6 CLINVAR:1810377 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21ac8785-e899-4248-bbb6-5f1949edd17d CLINVAR:1803197 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2103d52e-ca65-4329-877e-5fafa1d34a2c CLINVAR:1803197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09159a00-3f19-4d39-ba62-47cbba92b85f CLINVAR:1810378 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac50d162-4123-46c9-9cd0-9f654838922f CLINVAR:1810378 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0811c85-57ab-45e7-af9e-cc5d0770bb09 CLINVAR:1810365 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a521293-b233-4fab-b644-8feebaaf8d9a CLINVAR:1810365 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 627000f3-7287-489a-a24e-4fc1cf5bbdf4 CLINVAR:1684936 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba8d3ec5-d86c-44da-bd7a-ee2f274f89c4 CLINVAR:1684936 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0065ff46-7fe3-4c73-a77c-e8a7fe6d4a95 CLINVAR:1810366 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81db181e-a4b5-45a4-befb-3f080ca3b5e2 CLINVAR:1810366 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35908571-8cf8-43c2-b2e4-7ac59bbec291 CLINVAR:1810367 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ed1c9ac-b9b5-4acb-99d5-080345fe19a8 CLINVAR:1810367 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 299d229f-8652-4cf1-99da-6a149d398c27 CLINVAR:1810369 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4efbc1e4-60f3-4874-9d25-7eb23461a62a CLINVAR:1810369 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8969a4e2-98c6-4455-8855-d05186146cbc CLINVAR:1810370 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e0cdf0a-a11d-4162-b123-dfa29106d386 CLINVAR:1810370 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20af1709-a751-4d6e-beb8-f8d48c7aad6b CLINVAR:1810371 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38a8dce8-d784-4c09-900b-8b7bffcec322 CLINVAR:1810371 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7bb5ae8-99cf-4679-ae3f-60410bac8d47 CLINVAR:7957 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c011b25-4993-47ba-9efa-5db1c24ff482 CLINVAR:7957 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ae88359-d942-46d7-9312-3a2724992334 CLINVAR:1810372 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13f1310d-3ec9-4d51-a92b-8945476344b6 CLINVAR:1810372 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 102c0e4b-4ad8-4a60-94ad-bcf34c91089b CLINVAR:1073342 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21b07031-b2ad-4b89-9e88-32a78738b141 CLINVAR:1073342 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ff4b8e-4fb8-490b-bb1c-72b8be0d9a55 CLINVAR:1628 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e657fb7-9ba7-4e96-83e3-324c47588d02 CLINVAR:1628 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09de1a41-3ef6-41e2-b9b3-a9ac7d1c76f8 CLINVAR:818026 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 543519cf-e3d0-491d-941e-211b9d277340 CLINVAR:818026 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26be6293-5eec-4ce6-974c-0ff5645c1f05 CLINVAR:936835 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 274ab4a4-c319-44bd-86d7-57dc59a27ed2 CLINVAR:936835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b69ad0e3-ee9f-4f9f-a338-ebe61563a6c5 CLINVAR:557078 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7c96794-41e3-4ad6-9411-708a89c19bc0 CLINVAR:557078 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a934bd0-50c8-4051-8e3e-cefcd62ae251 CLINVAR:550315 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04452024-df0f-4523-92f6-74c8ca3e6686 CLINVAR:550315 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7519af40-5113-455a-937f-8fcfa25bbb99 CLINVAR:474901 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12ac8548-ef10-455a-9b77-e2ef9b31ebd2 CLINVAR:474901 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a506218-3029-4da3-9643-086bb2c91380 CLINVAR:203591 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42f10eee-87b4-47b1-84ba-29a845aeefff CLINVAR:203591 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33994a11-d1d6-4e5d-8f9d-37e455428de6 CLINVAR:595610 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c21ddf5-edf0-4ac7-8278-43aa53a11983 CLINVAR:595610 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44335cc1-950a-4553-ad3d-faffb235d387 CLINVAR:194317 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cf38f03-d961-4f20-9235-1b82cc794552 CLINVAR:194317 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb21e035-63e7-4a5d-9cef-fb7758869711 CLINVAR:429730 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b361b0e8-fc27-4f21-b324-18f606f9201b CLINVAR:429730 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b026457c-0923-4429-b1a2-1041e479d163 CLINVAR:932833 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cff03b85-de4f-430d-87ef-436492110427 CLINVAR:932833 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ef6601b-d889-4f6c-a9a7-462d71abb224 CLINVAR:379145 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f11e3484-dac9-481f-8afc-e913dfc907b2 CLINVAR:379145 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69483154-d471-4312-85ad-126f734a417f CLINVAR:4035 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 467c527d-bdfb-4184-bd93-683c1e1384fc CLINVAR:4035 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 151dad5a-250a-4b3a-94d5-65622100e448 CLINVAR:972747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9dee8a6-67e4-466e-ad28-85ffcb93eb39 CLINVAR:972747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41c8e296-2298-4e28-adcf-541fc3410961 CLINVAR:198393 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f11834d1-61fc-4fe4-9e41-678c9d424ab5 CLINVAR:198393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7657a34-894a-468f-8202-1bf6a36e27b0 CLINVAR:930445 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen acabd416-d2a9-46bd-82a3-360dff569af6 CLINVAR:930445 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55589342-e242-444f-8503-2196a23ecf33 CLINVAR:495664 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7911ccd9-20af-4bd4-94b9-2a47fc1f58f4 CLINVAR:495664 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60bbd9bd-dd0b-413c-b5e7-7b0ba297e657 CLINVAR:550825 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16dcc60c-87d9-4419-a4e3-7a14c1fb04b1 CLINVAR:550825 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 540e0703-7990-4efe-aabc-c26b2450db94 CLINVAR:283230 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02b2cc39-d9b6-472c-ac1c-15d9ffdb958e CLINVAR:283230 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 636fb277-f4cc-41c1-8101-a8ef0dfe4e86 CLINVAR:557811 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a1b5b66-56db-4bf5-8fb7-b4ef1380c136 CLINVAR:557811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 062324b7-0752-4d9a-a835-32fe4e4cc007 CLINVAR:1308288 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49ba522e-7e8e-413f-938b-6fa936c8745f CLINVAR:1308288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4911dd51-aa66-4d7f-a890-b7d501ea7397 CLINVAR:597944 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79c308f2-74bb-4895-a8eb-74693ed0f6c6 CLINVAR:597944 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 182c52bf-b429-42e4-a019-a20f2e6de3a2 CLINVAR:237861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 386c23e8-bab5-4551-8a7d-30af96c1ff79 CLINVAR:237861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d49bd357-d895-4ec3-a39b-8cdbde522545 CLINVAR:251895 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen faf4826e-ac97-404b-be78-8543e37d1fa0 CLINVAR:251895 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74c377c9-6a83-4f1d-b1cd-1367e9ab7f60 CLINVAR:252294 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2194bbfc-3a1d-412a-ab0c-d9c9c8624c51 CLINVAR:252294 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20d8fbfb-9409-4a0e-9b23-ad597af19ab8 CLINVAR:252295 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2a297f4-20b4-4a43-90eb-4f71d9b89c81 CLINVAR:252295 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba68c18b-5c88-4a74-890c-8469f74b409d CLINVAR:251138 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eabe23b9-0c51-4ed5-be3e-857092626548 CLINVAR:251138 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b81eb695-e960-41b9-ac5a-6838640ea462 CLINVAR:251876 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bf760b8-7d33-4616-a58d-b9bf12320870 CLINVAR:251876 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b06ee940-0cd3-4f48-9ed5-d71bbf7ce0ff CLINVAR:251808 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63a00a4d-75a5-4937-b27a-746761ebe3e6 CLINVAR:251808 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d22cea13-26f7-4b00-8b30-60082f79fde3 CLINVAR:226382 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25bdaf8f-8200-450b-9de2-31d4a994a34b CLINVAR:226382 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d7ff171-ebae-4d8e-bf5b-357dd5131b20 CLINVAR:183129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 252b1cf7-bea4-4207-b73c-e2438c5b7b71 CLINVAR:183129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6afa1b9d-3b7f-4b3d-a580-aee7dd595dc7 CLINVAR:927435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8086929-eff4-4db4-8a0c-9971e170f000 CLINVAR:927435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56054cd7-1129-4380-acf2-5507383c2ef3 CLINVAR:430743 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f51eefbf-a89d-4476-b3fc-397991b06001 CLINVAR:430743 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24853313-5bb7-44f6-b5ee-33939744f107 CLINVAR:252325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88ed113e-d403-48d9-acd3-506fb6ef6be2 CLINVAR:252325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d08f1f2f-a4d4-4f9d-94cb-dc8fb881fe1c CLINVAR:252110 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f19804f0-7512-4dfe-a5a6-cdaf1b1da114 CLINVAR:252110 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d148464-18e0-4ce5-867b-5a2c4a0134e8 CLINVAR:252109 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5b869c2-cc1c-4b9f-b37a-3aa2329b2d95 CLINVAR:252109 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88c868a5-a046-4b8a-b900-f7a5a6583fc9 CLINVAR:438327 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d8f8a63-e519-4368-b204-82ba9a46a546 CLINVAR:438327 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfe71121-c4b2-49e3-b0c3-e4b56856c696 CLINVAR:250946 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54cb5547-7009-4fe8-9ce7-36b8df88295c CLINVAR:250946 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fce06551-7b9e-46d0-9960-e0c75c1ecfe3 CLINVAR:251097 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae8ce3ca-c538-4226-b5cc-38c76ebd7895 CLINVAR:251097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d84ec4a1-1a18-41b7-bcc9-323e04535bd9 CLINVAR:252258 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd2ca652-e691-4fc5-9819-af149f7753e5 CLINVAR:252258 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aa26cee-9d23-429c-81e0-ca37f462a186 CLINVAR:403628 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afea6006-c3d9-465a-bd10-ba0ee33a4a2e CLINVAR:403628 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71b7a275-63ee-408e-bb90-12cde95b4cc7 CLINVAR:250982 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b1dcac7-17a4-4cce-9d96-7953fbcf61e9 CLINVAR:250982 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 340fd11d-1648-4a27-962e-c58c9d83bb19 CLINVAR:919564 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab69a21d-b5db-4aeb-9094-6d447518785e CLINVAR:919564 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d745d98c-80db-4cd8-87b2-4f7710f8a5c4 CLINVAR:252065 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57c46857-ea66-4d1c-9d64-fc395efc58e0 CLINVAR:252065 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 600e11cb-e2aa-46dc-a55c-61675ed4cf88 CLINVAR:251040 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d271ac1-45a0-4d4d-9c2e-e979720d83d7 CLINVAR:251040 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5290a281-ed22-470c-8fc3-01e622648aac CLINVAR:523722 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8984c271-6b15-4d5e-baca-555ab7c05baf CLINVAR:523722 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d665c22f-5405-4671-9935-4a38f0cda4cc CLINVAR:251087 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99b8aa30-722b-4383-8c15-2b19e9550826 CLINVAR:251087 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36e41aaf-8eb3-498d-97ad-fa3b04e8b2ce CLINVAR:923296 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed7dd815-661e-49b3-8b09-ca8d86716368 CLINVAR:923296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a87a4df1-eff7-4b43-bc7b-656720153d90 CLINVAR:430774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8d38cb2-4e0c-4c40-93c1-dd51e61905c8 CLINVAR:430774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebce8dfe-13e9-4c5f-8397-d9d75ecdc632 CLINVAR:183115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e49fea3d-58bb-4644-a5bd-88005115d731 CLINVAR:183115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfec2b18-e4bf-4d98-9910-4b2cc688c4c6 CLINVAR:252022 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56f67dd6-3fb1-43f7-997c-424e80d9d924 CLINVAR:252022 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b47752ef-24b5-4edc-97c5-fe241d2a8473 CLINVAR:441222 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1963986c-8bec-42d5-ae0a-0fbc647dba44 CLINVAR:441222 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e84fea80-fd3d-45f0-81bf-fbe235bff40c CLINVAR:183125 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1410f78c-5160-44da-be89-c9d38247bc83 CLINVAR:183125 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ef8def4-b94e-4b02-ae50-fd17de03d6db CLINVAR:252036 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70b92fb2-a197-4d79-89af-029742398413 CLINVAR:252036 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ed62b3-386c-4a8b-b5a4-586773f12ab3 CLINVAR:424578 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 530429b6-427f-46a2-a179-e253ac569554 CLINVAR:424578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81644d11-e05a-4226-a59a-c60ff24f08c9 CLINVAR:456652 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fc780b3-51cf-4375-b496-d09d91562728 CLINVAR:456652 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd08178-e0d0-4dc6-bf2c-938401b6ae3f CLINVAR:252071 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a26de2ae-bd37-4b27-be89-6c440e9ce7b7 CLINVAR:252071 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2670e4fd-8744-4b98-bbe5-2fe4e8a338da CLINVAR:251774 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a635415-9b12-4fe3-bc86-b6a2c0ea5b7e CLINVAR:251774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d929066-7b5e-4a19-a465-a7410076c918 CLINVAR:251773 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34a61193-5d18-4e5a-87bb-269e0a11e81e CLINVAR:251773 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf9ba570-0b63-47cb-882b-764ea1c147f7 CLINVAR:251775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa29adff-7384-47f3-ad2a-579ab868e834 CLINVAR:251775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919a4c80-84c6-48b5-b324-2d7d6487c38d CLINVAR:496018 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7047ab2-c35a-40c6-9d6d-27429e72724d CLINVAR:496018 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbbe8811-0dfd-4b8a-b85a-e4cbd787c72a CLINVAR:251510 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92308f94-fa46-4685-b86d-987cb1291ae8 CLINVAR:251510 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a2d8894-f599-4e7d-a882-94fe52c1a99a CLINVAR:430742 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ad14ea5-bdc7-431c-b9c6-6d790998d4ab CLINVAR:430742 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85953a23-d012-4763-ad66-41c2cb16f4d1 CLINVAR:924646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20e41133-391d-41d8-875f-0a56f9482980 CLINVAR:924646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9dbc993-4108-4a25-9ff0-dcd3816baf5a CLINVAR:251704 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5fb639b-526b-4cb7-9c57-f963f6850c27 CLINVAR:251704 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5efadb02-118d-4007-8aa8-0f6cc577f468 CLINVAR:870321 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ccfbbcc-70d4-4c2c-8fa2-aca348b0aa33 CLINVAR:870321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87ddc875-e1c2-4c3c-8aba-6c4cb315b398 CLINVAR:440630 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24891faa-d746-4b37-984d-1f5da15076ec CLINVAR:440630 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7adb9de-4603-4686-9e3a-8f43048c5a3a CLINVAR:924165 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24fe3d59-dbfd-4315-9254-529b86ea9606 CLINVAR:924165 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cb432b7-9dc5-4133-bb70-ca96e7769fb8 CLINVAR:250949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 279eac43-4d87-4b2e-a564-5b04f9c2b168 CLINVAR:250949 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 890bcc6d-fc63-4214-9b56-11b810b36f90 CLINVAR:250952 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d55353c-01db-4187-ab05-a1de8fde79e2 CLINVAR:250952 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c4f0661-b499-442e-a9cd-40920b15dfa5 CLINVAR:430745 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed664afc-b631-47c5-b0e8-0689f2bcb146 CLINVAR:430745 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff7179c9-7990-4f9e-8169-56714110b749 CLINVAR:252046 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19d4abc1-2453-47d2-a88a-f48a67f5a60e CLINVAR:252046 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eeffdc7-ed97-4188-a4db-c7b274c6ce52 CLINVAR:226304 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d461032-6b9e-4c74-b302-dae97659049a CLINVAR:226304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bef372f-dcc1-4f4b-aff9-6baf07101364 CLINVAR:183108 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 805ebb3d-2bf2-453f-8a71-0b6dea13861a CLINVAR:183108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c53bb214-951f-4a9f-99a3-d3430f1a5289 CLINVAR:250971 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9133f98a-7d86-46d5-a3b1-26fbe821fc08 CLINVAR:250971 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a875f8b2-20b6-437f-b772-1f631c089d1f CLINVAR:183094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e008f4f2-eb4a-4fa1-99fa-b320c386c730 CLINVAR:183094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0ad08a8-dd21-438a-8d51-104bff21aa79 CLINVAR:927149 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ec6e6e7-106b-490a-b423-54bd88a5f0a0 CLINVAR:927149 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2edd7619-026a-4633-9164-ca690f7028a9 CLINVAR:440602 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b63e75bc-43a8-4642-9677-8cef06a4fe1d CLINVAR:440602 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8594e5e7-f8e4-4867-9caa-df3591a4b606 CLINVAR:251447 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7eea6811-2c71-45b1-8cd1-d8d8265f5b0d CLINVAR:251447 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f84b5358-eefa-4b8b-bb76-f92d3df7b018 CLINVAR:456412 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a73decca-0a71-4970-9a5c-37b891080feb CLINVAR:456412 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 280cf5e0-043e-4ffe-a23c-87cfc4754ed8 CLINVAR:143526 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 275c51d8-899c-4078-bb2a-860f75afd846 CLINVAR:143526 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b5a9815-f773-42f0-8907-3edcc3c57f85 CLINVAR:690207 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 749a2f21-b561-4896-9e13-e24e13e3f57e CLINVAR:690207 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 838316d7-ece4-4997-a6db-da4e48e9f42f CLINVAR:9586 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe701b38-e1a6-4c3b-860a-7d98c491ae8e CLINVAR:9586 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bda7d90-8af7-4073-ad68-90e341e78b62 CLINVAR:42226 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80523c2a-3409-4950-813f-9d03689f5896 CLINVAR:42226 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f7b1e6-2bc7-42b7-a207-db4fac3e0b98 CLINVAR:689871 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 646845b9-df5d-43c4-aa79-598034851507 CLINVAR:689871 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 469961cc-a2f6-488c-83dd-a2cd6fff4ae4 CLINVAR:9612 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b72bb3f5-b29f-441d-ab55-f2421ad6b140 CLINVAR:9612 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b148b95f-b179-4fa5-b39b-72c6f88b2895 CLINVAR:9624 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ace53ecd-2504-4b5a-852c-78dd0709e86b CLINVAR:9624 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1603c79d-e647-43cc-8da5-b6de13b12ce4 CLINVAR:986494 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1fd9190-0951-4a02-8c95-756c968072f9 CLINVAR:986494 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 059efb26-2dd3-4d58-b5cb-1b6d1b6d9a05 CLINVAR:986422 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a646699-db1d-4db3-8420-e71da3d0f978 CLINVAR:986422 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4979496-85a6-4799-ac6f-60d78e92e2b7 CLINVAR:9566 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7df24a92-7d57-44c7-a387-632f7c968959 CLINVAR:9566 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaaa0198-7196-42d2-a879-2a8c2c68e3b7 CLINVAR:932827 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10ac0109-4c69-4b60-8511-dea830c13e7f CLINVAR:932827 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 680855f7-e458-4f92-8573-38acef6159fd CLINVAR:935797 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6d08d42-074f-4a67-bc81-501361774805 CLINVAR:935797 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b713f259-2405-4a72-aa41-c39f63baae3b CLINVAR:932845 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 979d91dd-3b90-4622-85e0-edd8bc961d03 CLINVAR:932845 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e6c4a0-8747-4472-9ffa-8b9e2f67a0a4 CLINVAR:690181 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e94669d-d079-4da9-b934-60f871c1f138 CLINVAR:690181 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6cc321c-d136-419d-be47-a3afb8365c1c CLINVAR:689874 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06f61155-e036-47fc-8358-ba5daff42d5a CLINVAR:689874 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0a84904-8ce8-4679-953c-03cd1e33e7f8 CLINVAR:379889 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8521ca4c-ab4c-444f-b82b-118a51dad62d CLINVAR:379889 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4699787d-d5df-4cc2-8600-b20c27452106 CLINVAR:225920 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44ad0592-db41-4c0c-bd8d-c0cb8291a37d CLINVAR:225920 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3506fe0a-d913-431d-8005-b341ef84badf CLINVAR:225916 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b0abedc-540a-499f-bbb1-c3838e2b8231 CLINVAR:225916 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89e0cb39-0628-4e23-ab2d-38fcbfa2cf4d CLINVAR:225913 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 716694c1-f1df-4d2c-bc5a-3f01684c77a0 CLINVAR:225913 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea7969cf-de69-4a5f-96bb-ca3f98782e09 CLINVAR:917494 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55ef7ac3-9f2d-4574-b60a-dd2cfa19d6db CLINVAR:917494 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc3a5bb2-4b27-4d7c-adeb-6bab92b4ef44 CLINVAR:917493 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22a24ee2-bdd7-4173-85e3-1c0eea39412b CLINVAR:917493 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29594eb2-d8ac-4b3f-920b-2be7adc6b0e9 CLINVAR:225918 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cee2b58-f182-4b05-8c9c-cc43478fc164 CLINVAR:225918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f870ffb4-4a0c-48d7-a16e-ef16da13cc63 CLINVAR:225915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae19f8ae-1eba-4eb5-8894-ed7eff8959a2 CLINVAR:225915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 615857f9-de29-4b14-b244-49abcffaed13 CLINVAR:225914 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65bc096a-1c80-4021-85b3-55eae88870a6 CLINVAR:225914 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac77f650-992e-4f47-96fc-ddcecf451f4e CLINVAR:1478699 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b9de2ee-3ce9-4577-af9f-f5d902ff250e CLINVAR:1478699 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57538a89-e2b4-4f8b-baa2-ee384d7d39ba CAID:CA392260686 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84a7f3c3-5d28-462a-b719-cdfa583849a5 CAID:CA392260686 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ac45475-d5e8-4f66-9024-5d3f09fb7c3d CLINVAR:2446453 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 631fa148-6c8b-490d-a170-dd4b4b3b007a CLINVAR:2446453 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48e9a936-fd12-475e-bb4c-c887b0e4d730 CLINVAR:556882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df001344-0a17-41d3-9067-b415c505bd36 CLINVAR:556882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caa5b6ac-603a-4d85-bd1f-0ae9610ef96d CLINVAR:1487846 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b63e69c-4160-4f99-9f2b-634c4adaaa8f CLINVAR:1487846 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a4374aa-c307-4bfd-a69f-2d44571aa825 CAID:CA1139532474 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82f93521-437d-4f8a-a681-3c6e320c9093 CAID:CA1139532474 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b925f211-dc30-49f1-8bf8-e21dcd11b64c CAID:CA269524632 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab16841b-cdf7-49e7-8256-b933ee3e1eac CAID:CA269524632 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55580b10-cb83-4d2c-81c4-082a1a2a46fc CLINVAR:2429790 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b13c42c6-ac9a-4084-9204-937fa0aa3192 CLINVAR:2429790 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f69f1081-68b5-47ff-b49b-a06618a63764 CLINVAR:645957 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b90785b-f65a-4129-adcb-5da5c8bee2a3 CLINVAR:645957 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4669131-97be-4f5d-bc34-2a68694e9277 CLINVAR:429154 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b5b694c-23c2-471a-88bb-f34611dbefaf CLINVAR:429154 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71fd0685-8728-426d-a53a-c920ae4982c9 CLINVAR:644129 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14cca936-bd89-4cf9-a955-918b01bf0733 CLINVAR:644129 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36e99fac-646e-4614-9f56-7126a9f0801e CLINVAR:483408 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eda20074-ddd6-42c2-afe0-e7fc05de015a CLINVAR:483408 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb75273-67f4-4755-a924-533e33cb70c4 CLINVAR:825868 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7dff56fd-220c-49d4-818a-982a3827ad32 CLINVAR:825868 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08f9fef2-f158-4486-a57b-d536fc643584 CLINVAR:375463 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56a634c7-fc6f-40fe-8b85-63d4ff8e7d5d CLINVAR:375463 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b75d09-bcfe-4434-ab46-c9605d564be4 CLINVAR:866837 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1368dec8-bd4a-44f0-90a4-6e9fc7c04cd2 CLINVAR:866837 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81794f05-f9dd-44ea-bac7-c6303e085a35 CAID:CA913187307 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8d12045-c108-4fea-b675-4d49ad1713b1 CAID:CA913187307 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 528a331d-7162-45c8-ae97-153ca6df8b99 CLINVAR:92289 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3ca5e46-413f-4bd3-96a3-05bcfdc53e8a CLINVAR:92289 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ada16d6-a671-40cc-bc7e-be13104b2617 CLINVAR:474878 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfb08c3e-8fae-4880-ab1f-936bfe15fb9e CLINVAR:474878 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ebf5a95-e84b-49ff-966b-ad551903fecf CLINVAR:941106 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d488f16-c5e2-4c75-a993-30330363b006 CLINVAR:941106 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0972587-8ed9-4eb3-80a6-f78204e41f2d CLINVAR:932838 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d022f03-b44c-4f07-b851-bbdcbc036c60 CLINVAR:932838 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5a25743-c4f4-42a0-ab5a-dcac0d79bd9f CLINVAR:2429755 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 189688c2-aef0-400e-9d9a-9ac2aa0b9e2f CLINVAR:2429755 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaab29d4-8173-466d-ab20-d31a67a91f28 CLINVAR:2442270 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f9da3b7-7f7b-4c1b-aa7a-b28fa37b968a CLINVAR:2442270 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 092bbc86-9cce-4e4e-9fa1-bcfd2bca0fb4 CLINVAR:2442281 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5482c3c-0a5e-42fa-887d-536e35ed390d CLINVAR:2442281 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb85409-f632-4270-80cd-15a4ac51e2ce CLINVAR:2442286 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5f2d0a1-2e0e-4a38-8eb5-5299ec1964ff CLINVAR:2442286 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a54d2012-216b-42a0-8fc1-ef548b07f236 CLINVAR:2429759 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 929974a5-6d06-4ef0-bb75-f4a58f55e49f CLINVAR:2429759 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc4160e3-5aa4-49a5-ad04-aedceeeb1d09 CLINVAR:2442287 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c3bdf27-8a7f-4cf2-9e8b-1d16a46fd830 CLINVAR:2442287 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cedbd712-e087-43c9-828f-f6fd5fe696c0 CLINVAR:2442288 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4f55224-830b-4ac4-adae-7c1a9695de5b CLINVAR:2442288 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aef7d68-0788-46be-a96b-be491b02387f CLINVAR:2442290 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff96108c-a20a-44c9-b812-d2bf49fbf196 CLINVAR:2442290 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87051ea5-e0c4-4785-a069-8a13b0909fc7 CLINVAR:2442263 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 838bc96c-c113-45ec-b744-f1f9069b5336 CLINVAR:2442263 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bffac3a8-8dc6-4256-8eea-cdc5afe6e49f CLINVAR:2442264 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96efef10-0e86-4b9a-8bfa-887d35a426bd CLINVAR:2442264 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e207427f-cfac-41f4-aced-58b9dea3a0fb CLINVAR:2442265 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bb528b8-8cc9-494f-a596-09e52d10f49a CLINVAR:2442265 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9865f06a-90b8-47b2-a658-fbd821ae7836 CLINVAR:293716 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6705cb1c-6f23-4c29-ae67-fe633263e855 CLINVAR:293716 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 148066b5-3413-4051-a349-4ef59e8606c3 CLINVAR:2429760 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e1fa976-347b-47fc-92cc-8a9cb9fc4005 CLINVAR:2429760 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f264658a-f308-4188-b98a-ff7f4e34e306 CLINVAR:2442266 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33af9a02-187c-4090-9da3-0c5286ce65c8 CLINVAR:2442266 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df768a66-aa8c-4b95-b403-074e00f71884 CLINVAR:2442267 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5def958-5c59-4f1e-8623-b47e3d2ab333 CLINVAR:2442267 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec279afc-5eb2-4755-91bd-93b2be604641 CLINVAR:2442268 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 690c6796-a0ab-46e7-85ec-9ca76bc051ad CLINVAR:2442268 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c6eec4e-6a85-4fb2-a3b0-3ab36f12f931 CLINVAR:2429761 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f345469-762c-4457-96ef-8cfe3e1e0e9e CLINVAR:2429761 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd54c2a3-a125-4d36-96c6-649e9bdb3b05 CLINVAR:2442269 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a24478fb-ea7d-43ac-ac97-c70b66f9331f CLINVAR:2442269 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61207340-c4d0-48ad-86e8-51dea03d2d21 CLINVAR:2442271 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 079df945-6634-4c67-ab7e-39d930a8c54c CLINVAR:2442271 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00cb0789-2642-4905-8e0f-17236ce0f1e6 CLINVAR:2442272 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e8266ae-083e-4c4c-b56a-2d253b7741f4 CLINVAR:2442272 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c65b4f-756f-4265-b2f1-aa4872bfe07f CLINVAR:2442273 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f408ac51-642f-4169-8ecf-87d6f76662e0 CLINVAR:2442273 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29763764-2c3c-4802-8679-f118c7942287 CLINVAR:2442274 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbb72537-e4d9-4a0e-9af0-8e6c7cf638ce CLINVAR:2442274 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a6947b-cf61-4dc4-affb-6e0219096c5c CLINVAR:2442275 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 732bdfcc-85a5-4249-937b-42440738c430 CLINVAR:2442275 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc8000c3-d646-491a-8629-d9a23f95baea CLINVAR:2442276 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4045b7ae-5d43-42fd-91bc-b5faa1f26946 CLINVAR:2442276 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d50c6bfb-e143-4830-a12a-b3aeadca6bdc CLINVAR:2429762 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d4aed68-01c7-4d3b-a39c-e2a38eae460c CLINVAR:2429762 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f011851-52da-448d-adfc-a8fead87ad6b CLINVAR:2442277 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e202c19d-ff53-4ffc-aba5-81f33ce0b3a3 CLINVAR:2442277 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8972626-b744-45bb-897a-fc3cb446c8bc CLINVAR:2442278 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a35c50f4-44dd-4283-a7bf-acb6bf53cd74 CLINVAR:2442278 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fb5f857-e272-44e6-910a-8ee072eb2d06 CLINVAR:2442279 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 115b0f3c-4c5f-4a3b-ae7a-7505a41c2579 CLINVAR:2442279 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b81da04e-0c26-402c-bad2-72833b95dd9d CLINVAR:2429764 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70a0ea9b-2964-458b-b423-ea973b1c92ea CLINVAR:2429764 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3d233ad-17e0-485d-af6d-af6d5e74d8fe CLINVAR:2429765 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afcc0a80-c246-4269-ba07-155249eea70f CLINVAR:2429765 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0cfa7f0-2ae1-4652-8839-55be1d652802 CLINVAR:2442280 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47054c3d-c3fc-4a66-b466-bf7d84cce32b CLINVAR:2442280 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 094ff696-380d-48f9-b7fb-47468f4fbc63 CLINVAR:2442282 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 098d35bd-07ea-4a06-b003-16ed4e2c2c61 CLINVAR:2442282 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3824acee-99a2-4b5b-8a8c-ed67fbdf2f19 CLINVAR:1439558 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 724aab2c-4a78-4e13-b762-9d10e475cf4e CLINVAR:1439558 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ee7dec9-aac3-4819-9b96-f2c50d2322c1 CLINVAR:2442283 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c636bd11-2f3b-4991-9505-3be7ec7c6798 CLINVAR:2442283 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 104286cc-3455-4e35-b7db-ae6f3f4e90e9 CLINVAR:2442284 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63d3e48f-2cf5-47e7-896e-8a41c550c5c4 CLINVAR:2442284 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e033ed5-c1fa-4357-b5b7-9f88a3d5d953 CLINVAR:2429756 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfad5979-cb94-4cc9-b941-bf643e9d996e CLINVAR:2429756 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cae6b88b-f5b3-48b8-af20-31d660da6689 CLINVAR:2429757 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 762af07a-9646-4e63-8fe6-41d9a8463942 CLINVAR:2429757 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 305c8c66-2f9b-434d-bc9b-d5386c089db9 CAID:CA8603502 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b87e4be6-d5e3-42b2-9126-c3ce6d3cd97b CAID:CA8603502 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0429046a-939b-498d-8bff-123285485518 CAID:CA8602740 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f38b5fdd-8340-466c-97f6-8b24dd4c8eaa CAID:CA8602740 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51582bba-f323-414f-8d11-63ac1c569bec CAID:CA915940796 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6c516c57-2061-43e8-a840-a97e941d58a8 CAID:CA915940796 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d518df3-fda8-42f0-abb7-d275df0d26e9 CAID:CA400033003 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adcd5128-101e-496a-8ac8-a47e550c7d6d CAID:CA400033003 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c70ddbc-cfcc-4bc4-a68f-b855f23712f7 CLINVAR:890710 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56bbce1e-00e1-4331-984b-2a8755b2c102 CLINVAR:890710 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06c49108-a268-4fa5-a5bd-522aa7c25c8a CLINVAR:890713 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a92a9d2-c54e-4432-a8d6-cbf607e35012 CLINVAR:890713 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e209372-ff0e-4093-bbea-81b4c2087623 CAID:CA8622991 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5924340b-d92e-4679-b5b7-860627de92a2 CAID:CA8622991 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cc8a864-d1bb-4e35-9080-0e30ae9f1a33 CLINVAR:2498348 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bc2f3ae-6d80-419c-8834-8c28eb7e7e0f CLINVAR:2498348 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fa30369-3daa-4604-a3c7-4b95998b3f29 CAID:CA399790399 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb5119cb-bc1b-4357-8c8e-65acae6baed0 CAID:CA399790399 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c57a587a-3d4d-4a94-880f-e6ee44fe9d5d CAID:CA400029436 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b26230ea-9048-40a8-99f2-0bcad227e220 CAID:CA400029436 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f74adf8-3194-4b2c-a914-f62cffefbf9c CLINVAR:2498351 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ef6efcb-b840-4e84-8440-aa0136ab0eae CLINVAR:2498351 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12b75d1f-64c6-4251-b71c-9202cb5d3010 CLINVAR:9628 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0eb486a5-6fde-40ff-b7e5-057b621e82ba CLINVAR:9628 biolink:is_sequence_variant_of HGNC:7470 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aaf102f-efe1-4f46-98f8-37c46b603944 CAID:CA915940266 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abad75ab-900f-481a-b458-014faffb497f CAID:CA915940266 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90b5d8f2-7d5e-4a6e-82e2-0ba00998f6a2 CAID:CA915940809 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f4cc8bc-f71d-4778-b1fa-1032d1342288 CAID:CA915940809 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95563148-4f5c-43d6-b666-97de50839d63 CLINVAR:892353 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dda1d9d8-6622-4e24-ab93-0be5ad2aedaa CLINVAR:892353 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcbf0509-405c-4c18-8df8-966c78cc2b6b CAID:CA399805912 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0425dc23-5164-4bc7-b79c-f2e07b80f785 CAID:CA399805912 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc131727-8dad-4ea6-8a39-c5c43a8e2ccc CLINVAR:2498356 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8badf96d-71e7-44ca-9ed9-92c5451de652 CLINVAR:2498356 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42269fdc-1c0e-42e8-8255-d0db44d31e4d CLINVAR:143603 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 446438aa-149a-46de-8b6a-04da8ebf0f50 CLINVAR:143603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40a6e088-ec9b-40aa-9c36-633042f90ceb CLINVAR:324982 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c7d19b3-4739-4ea3-980b-52f663fd2cbd CLINVAR:324982 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c123cbd4-c162-4f77-97c1-9d5b82d30e2e CLINVAR:371464 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90153a91-4071-42ca-8f12-ae404e38dbef CLINVAR:371464 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf08c124-da18-4329-a99c-3b81bff01aa9 CLINVAR:555732 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5cc908f-d937-4eb0-b68c-62899993ad97 CLINVAR:555732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fd98747-4200-4e66-82e8-a867b49453f6 CLINVAR:1676595 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d23e3d7a-b1d8-485f-9a75-5f0838eaab8e CLINVAR:1676595 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07af759d-d217-446a-8c14-ce3063387479 CLINVAR:825824 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e89f3feb-fc7b-443a-a11c-0170a877a7b2 CLINVAR:825824 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f43d14-3f9a-4f57-bb38-e24f7ebf37ad CLINVAR:543574 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf405d43-df35-408c-93b5-7e4da0e20812 CLINVAR:543574 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04c1b8e8-db00-46da-940f-72f52fff3426 CLINVAR:570456 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f38af14c-fe96-418a-ade8-c6db7c04da27 CLINVAR:570456 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2d69554-ec10-45df-808a-8d66f6b23085 CLINVAR:1687567 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5496adb-96d8-4bbd-9f33-43c13974fcf9 CLINVAR:1687567 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 390fcdb4-766c-451a-959c-5700c0d8fc04 CLINVAR:648917 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f214660f-2ad7-44c9-b77e-9ce0d6b199fc CLINVAR:648917 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea84bf79-14d2-433c-bf65-d71592609389 CLINVAR:1067574 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4a5cb19-3142-410d-a56e-d120e081beb5 CLINVAR:1067574 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de472e88-bae7-4e42-82fe-ee87144680f1 CLINVAR:972790 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e70f8843-1789-4190-8fd2-63acd40a135a CLINVAR:972790 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3052b341-7980-4077-a12e-d3f7d258281a CLINVAR:982297 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f5392fc-7555-4e77-9462-7d7ccf823cb5 CLINVAR:982297 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7ca13fb-f136-4d38-8696-747d5e5d3fcc CLINVAR:1037598 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 980fb4ce-2285-4534-82a0-b96a4e4ed3e0 CLINVAR:1037598 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1ef09c3-c5ea-4a2e-8481-d99df63cce64 CLINVAR:92465 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d0df890-6817-41f1-9127-f051860e8e26 CLINVAR:92465 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d179eeb8-d78c-4530-b8ca-24e1bb607c41 CAID:CA913184761 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78d5651c-6567-4b32-9698-f085b5079d57 CAID:CA913184761 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a54380e6-d487-40b5-a2fe-1738f30f389d CLINVAR:1353052 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 961d16b9-85d3-40a3-831b-268e78741a6a CLINVAR:1353052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29db3cab-125e-4ce2-a916-c6afe309d7ff CLINVAR:11699 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 833419a2-a5a2-4a95-b299-b4b687ac9283 CLINVAR:11699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6413dce6-8b36-4e28-bbd1-40b32253ea91 CLINVAR:520792 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f0145e1-10bb-40dc-a63c-25c37025a31d CLINVAR:520792 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af3302a8-6dd6-46cb-9887-b94a2ec17377 CLINVAR:430374 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0af42266-6c7f-4e27-bc67-109003d66a72 CLINVAR:430374 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c946f4d9-225a-48a5-bc7e-90c20162d3f2 CLINVAR:844968 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3f95d37e-2a51-440b-9545-4be4402534db CLINVAR:844968 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d6ab86-b8df-4d80-8fe5-241e73f332fb CLINVAR:916122 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f31f1270-7b1a-41b8-bc9c-f77dfe3f9ef3 CLINVAR:916122 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5a7b3c9-23cd-419b-991b-6f6b655cee67 CLINVAR:849693 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b5637dd-9688-4913-884d-cee354a7982f CLINVAR:849693 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b5d9dd-d2f4-4399-ac86-970f94cab9ed CLINVAR:939992 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9e191c0-23db-41e8-bf4b-971eb98061ef CLINVAR:939992 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd24d8c3-10bb-4878-92ed-3e54d1cd9540 CLINVAR:2446451 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2ae3b419-4c76-4cca-8e7f-71d062afe557 CLINVAR:2446451 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 916a321e-2999-4634-ab35-d01559f1f8d3 CAID:CA415084325 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9658679-1854-4526-b7e0-dad1625ea050 CAID:CA415084325 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab7a6eb0-8d17-4c7b-baed-e9cc2c80d0d9 CLINVAR:1211026 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eac9f775-5fb9-45ae-992e-6d6e3ce824d7 CLINVAR:1211026 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09cc010f-15e7-4bbf-8bb0-e624c9f8e166 CAID:CA415079466 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a875e95d-fb30-4b95-a27a-155270151363 CAID:CA415079466 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bee2a20-42c6-4fc0-a4c6-5869e467dea0 CAID:CA2573334474 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cbdd8987-1fef-4379-8c17-253bc4253e3b CAID:CA2573334474 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a637e874-f227-491c-9fbc-3e6de3ebf79b CLINVAR:2446447 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5551d8c0-7a82-42be-b798-b7194e87126d CLINVAR:2446447 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5374d964-15b8-4a7c-a0f2-43c75aac97b0 CAID:CA2573334479 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1102a4b8-2957-4766-b412-6b9ad1916a33 CAID:CA2573334479 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1d39455-1188-408a-90a4-3cbc8c5b1310 CLINVAR:392462 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e479ca6f-f184-464f-b383-ca524aacea72 CLINVAR:392462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc1649e6-af20-4894-9626-ecf047a398e3 CLINVAR:689840 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33ffae04-bece-47d5-8855-7608d33d6813 CLINVAR:689840 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 019f68b3-e366-4ad7-84ad-3ee19f144deb CLINVAR:9573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ee5ad05-e9b9-46aa-ac7a-d9215726af63 CLINVAR:9573 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a762633b-f1a5-42ec-9d72-b9f23755c278 CLINVAR:689856 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2792660f-5fc4-4682-b497-263660441bac CLINVAR:689856 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c490ab5f-2981-4880-8e86-401cde2d4962 CLINVAR:9683 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4948538a-e893-49cb-a3f7-a42be3c463b7 CLINVAR:9683 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee8612c-fa46-497e-bc5c-07896aa6eb38 CLINVAR:628229 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24457a7f-dffb-4163-b154-9401e0bf77dd CLINVAR:628229 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e5eb7e-fb5a-4702-832e-4193961ddca6 CLINVAR:824698 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94aff350-1144-4dfa-8de4-3655385aa505 CLINVAR:824698 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfb80532-51d1-44e1-a6bb-ef9f8b59c0d7 CLINVAR:217982 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 582d7952-c6e9-4f7c-bdfd-58225c8a4ff3 CLINVAR:217982 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9418916-8120-44e3-a9bc-a7ab274d7f40 CLINVAR:804 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13d0bc41-585a-497a-8b62-12c949169b05 CLINVAR:804 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c317b2da-f314-4fe9-8ebb-38966700aabd CLINVAR:411469 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be0d35b8-38aa-49f3-9bd1-06df384f65c8 CLINVAR:411469 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1029eeef-019c-4016-a099-e357b86cfa98 CLINVAR:218000 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e39a517-ee86-45ec-a58f-39a2065e4410 CLINVAR:218000 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3132991-53f5-42aa-88be-cef5112f6e24 CLINVAR:827113 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b199b2d-c465-4a47-95f9-aff354702b42 CLINVAR:827113 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c84840-1b87-4e9f-a905-d32515c76101 CLINVAR:418007 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f21232c-1b59-4a66-8232-c31f09630ae4 CLINVAR:418007 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cbd13cb-e077-4366-88d8-fbb0b6a84ade CLINVAR:184999 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c74d72f-715c-477d-9dcf-a2e2b2b4cf25 CLINVAR:184999 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24a8b091-86df-42df-9fb4-6ffc91ba9b16 CLINVAR:822187 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 688b0085-916c-4f51-8d1d-3077dfa074cf CLINVAR:822187 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54ef9594-f61c-42e8-86eb-12a1e1a660e5 CLINVAR:438864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ffbe4e5-88bc-48f2-9895-ccb49772d820 CLINVAR:438864 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5faadc33-0c7e-4f4d-a906-3e481efbc6b9 CLINVAR:826 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88d2d229-0cfb-40cb-b11b-b762ff7eaa96 CLINVAR:826 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e0ad013-f597-499e-8fbf-7dd22785a5cf CLINVAR:230944 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b39b458-2b8b-4231-a900-3defca7c3dd2 CLINVAR:230944 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62f958f8-5057-42ad-ad8c-dd6985b0008c CLINVAR:411555 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72778c0a-949e-4739-8914-e9646e45d0af CLINVAR:411555 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c88f8cc2-b6cd-438b-a409-927d111a54a4 CLINVAR:649594 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79e4cf7c-c574-4708-82e3-312aae9c958b CLINVAR:649594 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e030b46-d54f-406c-bb59-da439bf8922c CLINVAR:490221 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d97d78c4-b816-42ab-9d07-1800176b0966 CLINVAR:490221 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fdabaaa-c91d-42d8-a67c-b3be0416ea4e CAID:CA658760617 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3242d10-3e04-47f2-97a3-7caffcc67df3 CAID:CA658760617 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a33ae96-e013-4208-aae3-2f1d1ca75ea1 CLINVAR:419202 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eca180ca-bbdc-4be5-81a7-914aa2f87169 CLINVAR:419202 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8332ccf4-1790-40c1-8bc7-01b4b5344278 CLINVAR:428167 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe94129a-87f6-45a5-a5b7-b9ee5e61f10f CLINVAR:428167 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a08325c1-d41e-4635-b12b-eca60366907d CLINVAR:1393312 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc2f9f20-4318-4088-8402-b6d5525c0d9d CLINVAR:1393312 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f74be71b-3b1d-4c56-b684-1646ec1f0869 CLINVAR:428186 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b508f53-a828-411a-90bf-d0ed0a5c2f3e CLINVAR:428186 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd51e657-d4f4-4372-ba38-fce43c4ce38f CLINVAR:469904 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8037c5d0-fc43-4c44-bacf-12f7b1898c43 CLINVAR:469904 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1beb1d8-af3a-4a93-9d13-53353d80651a CLINVAR:233215 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c549941b-e1e5-4426-83fb-8c5bb3f4a869 CLINVAR:233215 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1230e086-577a-49f8-9393-837ba24d5401 CLINVAR:862543 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4371a8e3-0b3d-4a42-82d6-0827c489ba72 CLINVAR:862543 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbeb02a4-11c9-442f-9897-1ce4890d1b80 CLINVAR:816 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99a1ed5f-3847-4c9e-8571-8addeee6474a CLINVAR:816 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c31f053-3ee2-400c-b1c6-a4aac271bf86 CLINVAR:140839 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 939212ab-6536-4cf6-b843-9a29acfc335e CLINVAR:140839 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b3a787f-8d0d-4ac5-8c51-e0ea9f8dc6f4 CLINVAR:486786 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd2ba86b-97a9-4b3b-84e7-491452a69663 CLINVAR:486786 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c186fcc-eb13-4811-b18a-1f3e3272e42d CLINVAR:411472 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29ef84cb-c1ac-4e09-b317-2b23b1506c81 CLINVAR:411472 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfdab849-fa76-4ede-9e4b-5b202538d78a CLINVAR:371858 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 666c6bc3-080e-4eef-b270-cb2abe282b9d CLINVAR:371858 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1bba025-2497-4ce7-ad71-745b6cd69c3e CLINVAR:486740 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c26272aa-1e47-4994-a551-ce94e3d68fe2 CLINVAR:486740 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abbecc82-29eb-4229-98a7-79390973e6b6 CLINVAR:950642 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e54ee9de-2042-4a5d-afe7-faca174f8c3b CLINVAR:950642 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c99cfa03-a729-4b75-bc3b-417debdffc55 CLINVAR:537703 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35deb9ef-28e0-4c0d-b5b1-7b543ad844ed CLINVAR:537703 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7822be1-5b70-483c-aee1-05827d0b7ddd CLINVAR:429040 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3d7f9d9-651c-4f43-a78c-6aa3b0848753 CLINVAR:429040 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4caad923-0da3-4a9c-a832-89153e72086a CLINVAR:642643 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61ec99cd-5055-46f5-b7d1-c19dc758b0bb CLINVAR:642643 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd01a96-02aa-451b-9b3c-6bb5e1de70fa CLINVAR:9618 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bd0f50d0-6d2c-43e5-93a9-a155f5e19adc CLINVAR:9618 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01cfcb65-f955-43b1-ac71-3d4327e88300 CLINVAR:9610 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 202cf404-9648-4b2e-8027-07a8c8ce8e3a CLINVAR:9610 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33d1b5f-6310-4257-8d90-c825b1e3ffdb CLINVAR:9580 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e355c289-4a6e-4f0f-b466-5141ca1bf46e CLINVAR:9580 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20e1f0b0-9879-4756-981b-62e9719ed9a6 CLINVAR:986496 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46e6e4d7-05f2-47a8-b3f2-ef199807bfda CLINVAR:986496 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83630f53-8003-43f8-82b5-2e8cac8b6a25 CLINVAR:9616 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f14c1ce-5292-46c5-9203-147602857f56 CLINVAR:9616 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1f01155-c69c-4d2c-bd6d-e1d20681b778 CLINVAR:9617 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3942868b-a71f-4326-a6fe-a5c1608de645 CLINVAR:9617 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3eda407-fc2f-416c-b5ae-cface2784641 CLINVAR:102628 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31cb0b23-c27d-43fe-8f35-c4a48ebdeae7 CLINVAR:102628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c749df2-ba7f-4578-b856-ef6673992382 CLINVAR:1460083 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bed8a017-66dd-47f9-8480-b2dbb37f9ecc CLINVAR:1460083 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbe85011-73ac-4a32-b64d-5ee7b8acf4c2 CAID:CA16020827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2465c7d-abab-4c8e-8e45-0c87b2b7ebfa CAID:CA16020827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abf4a0a0-b895-4f63-9a4f-6e3f111c7e9b CLINVAR:986440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20261728-fea0-473b-8920-bd064859035f CLINVAR:986440 biolink:is_sequence_variant_of HGNC:7492 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4797b6c-f281-4236-b792-3cd2e7a458fe CAID:CA386304171 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6294e7d8-17de-41bc-b185-6c2634de8527 CAID:CA386304171 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb8edeac-f8ef-4423-873c-6000ab84c583 CLINVAR:102746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a4c108c-0302-41b7-b827-87663832dd7c CLINVAR:102746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6231a713-58b2-42e3-89a2-af39b492b116 CLINVAR:576828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3912fb8-1f0a-4513-84b6-1e1ba2bbc75b CLINVAR:576828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac350b5c-ea0c-47a3-b935-ca4d235532c8 CLINVAR:2573215 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0f9a28c-498e-490b-b24e-4bdc1db4efb0 CLINVAR:2573215 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16480a37-8768-4b15-af10-2c89be245de7 CLINVAR:557365 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f318247-635f-41fd-8d2c-f4cff5d77cbf CLINVAR:557365 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce8d94c1-86ff-4ece-953b-233f2aec3906 CLINVAR:595611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 544214e3-7cbe-4096-b258-7d7d5c9b784a CLINVAR:595611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdc6f3e9-3b1e-49af-acd7-2a333de0fee8 CLINVAR:102625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f73aa4ad-73f7-4c1f-b1d3-763d353464c7 CLINVAR:102625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5221c1d7-c18e-400c-af98-9b6d149abbe8 CLINVAR:9565 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95604ce6-a9a8-47e3-800c-5d3e8c050068 CLINVAR:9565 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22ca550d-2a3c-4730-afb4-a63a96c55517 CLINVAR:9581 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 68790d1f-2e48-4c35-b4e2-e6c626dcbeb9 CLINVAR:9581 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8935c73-7484-4fca-9661-712760a081b1 CAID:CA8602771 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6ee7dd3-3e55-4010-8507-bd221d21b4fb CAID:CA8602771 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3050830-2651-4e4b-acac-816e0311bf7e CLINVAR:2498358 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b970aba-809e-4d20-b5e2-e39435199b99 CLINVAR:2498358 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd148cb9-56d8-4015-8eef-d4ced06dc83d CLINVAR:2498360 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d62afc2d-3745-4cfc-9eaf-67b7ad4ce3fe CLINVAR:2498360 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c88cf87c-1dcc-4a99-bea4-eb9cb2064c2f CLINVAR:2498361 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbfd0a49-f6bc-45e3-8d43-14eb27fb1f4a CLINVAR:2498361 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0887550f-811d-48c3-8266-445c9d9519eb CAID:CA915940807 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a37d234-3064-493f-85d2-5c1975643cb2 CAID:CA915940807 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30b023a6-2844-442c-bdc0-70ae246277e0 CLINVAR:2498363 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a10cd09-e040-4373-a32f-5cb4f5658cc5 CLINVAR:2498363 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0018cb5c-53ea-4996-bea8-b229dfca6841 CLINVAR:627094 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6dab2813-5a03-45b9-a018-770d7d3f3ac5 CLINVAR:627094 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f744a5d6-ee41-455e-bbb1-3f00094b0045 CLINVAR:634433 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fcd490b-fe8b-4424-ba4a-2dc7718f7029 CLINVAR:634433 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5aad61f-98bd-48f0-96c7-c44949f0dd3f CAID:CA16020822 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40c04a95-fdaf-4873-a709-29af5d9b9dd5 CAID:CA16020822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e31cb39c-2618-478b-b1fc-4851e6250749 CAID:CA409106289 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 177a9157-52e9-4cef-847c-8e7cbadbef17 CAID:CA409106289 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14360106-d412-47cc-8b5d-3531fff33df5 CAID:CA409105438 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48416ee7-50f8-4bb7-90e8-774ea8212a93 CAID:CA409105438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5647f910-9615-44e2-91c3-9c4a8a6b9da7 CAID:CA409104278 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ce7cd77-f948-4724-9930-26014c2e2a0c CAID:CA409104278 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f95f8f4c-c954-4b74-9bd5-3edf10d1cf09 CLINVAR:660424 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8377340-0081-4d18-bf2e-b37ef273b4ae CLINVAR:660424 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 014b63bf-a738-47c6-9bab-25f13391fc2c CLINVAR:932842 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9643f0aa-1dc5-49c2-90d2-959a7e0c44b9 CLINVAR:932842 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5566966e-b81a-42c1-b029-c1665ff8eda7 CLINVAR:932852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abfbd3d7-b75d-44b3-804e-19d5bf25dbcd CLINVAR:932852 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b8fc81a-5da3-4f3d-9f7a-b424d7a40b56 CLINVAR:932834 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 777c23ac-f3f6-4ced-8459-2ccb9ab1ce1a CLINVAR:932834 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 936c5902-a984-4934-9830-3c375a38714e CLINVAR:932176 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33727b9a-a01c-43c3-b4ae-c92a869eb6bb CLINVAR:932176 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efecb822-76e9-4a08-b73f-32ae55b0f35c CLINVAR:373427 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 059e299b-a5c4-49ff-96f6-a2db8f01a050 CLINVAR:373427 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db9d77ee-8bea-4e94-89e9-20477be31e9e CAID:CA1139533037 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76364c57-c6c6-47db-aa2c-143c083de273 CAID:CA1139533037 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e6924c-8da6-4fbc-a2e7-810fd4bf8cca CLINVAR:618219 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 208b8ce3-c604-4596-83a9-7b38848f1b42 CLINVAR:618219 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 599d8623-aa92-4a0b-850f-2fdfe2480e8e CLINVAR:618216 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9000bd25-644d-4df4-83cc-67b64d00331e CLINVAR:618216 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afa46f4b-6eef-4cca-a3f9-a9138dcfdd84 CLINVAR:65513 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 837db05c-67c5-4789-852a-b58045b7a66f CLINVAR:65513 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c193cfab-0831-40b7-a960-94def6de0aad CLINVAR:9694 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 925a6cc3-348d-4c12-b4e9-3b4f8c58a8ec CLINVAR:9694 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e750200c-c7ea-4f22-878a-36ee076441b0 CLINVAR:544251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b9e42e8-e521-4157-b23e-7e7094645127 CLINVAR:544251 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea73722-0f5e-4de6-9db3-878e5900e98d CLINVAR:1402763 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfb627d0-d05f-42f5-973a-d76aa4c07ce7 CLINVAR:1402763 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27338cc6-4ad1-4671-8d36-445fc316fa93 CLINVAR:8305 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8752710-427a-450d-9c18-89042e749ac5 CLINVAR:8305 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd1825af-ffc4-4d18-897e-f292f79435e2 CLINVAR:2446454 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e36da401-29c4-451f-8397-437697e306a1 CLINVAR:2446454 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa1abd39-d7bc-4201-a439-4bfeb5188474 CLINVAR:2446455 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a2bfacb-3731-4b39-b057-4805234cea34 CLINVAR:2446455 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32f0e5ce-9514-4f16-8a5f-856a5ee761ec CLINVAR:2446456 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6dc4adb-bef6-472d-9c4d-fb6e40e3c965 CLINVAR:2446456 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb4219a1-e4d6-4091-85e6-e46a2a63ec13 CLINVAR:2446457 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d47f391-8fd8-44ec-9e9b-215ac5137b71 CLINVAR:2446457 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df023711-eb6c-4b9a-8e76-0aa9f6fa5baf CLINVAR:2446458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 720077ff-2948-4e05-ba06-1b885f2d0606 CLINVAR:2446458 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc677e61-5424-410b-9543-5d9dba9be4ed CLINVAR:2446459 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 710d1cf1-9a85-4775-b7c8-b1bc3e69203a CLINVAR:2446459 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9730e356-8214-44fe-8bc3-d67f6fbefeee CLINVAR:2446460 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6094f733-c31b-4482-953b-650b9c1c9861 CLINVAR:2446460 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a4dadd-1dc4-425a-aa71-d4228ad92afe CLINVAR:1335317 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40c01923-aff9-4ee9-b029-e32a4543cf12 CLINVAR:1335317 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 263c3eea-c2be-4eaf-8734-92bec3412e67 CLINVAR:1409758 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ede46dfe-dbd2-4ab5-9fe4-de57d32b8ec6 CLINVAR:1409758 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71c33a7c-8c43-4086-b374-b3917c88edb6 CLINVAR:1328978 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae708376-931c-4879-9273-84565b3d75b0 CLINVAR:1328978 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9fc576c-6e86-475c-bf7c-9b537cf32412 CLINVAR:9583 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40a32611-dfb8-4037-9008-4a21f6b7ed5a CLINVAR:9583 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f49edeb5-34f4-4abc-8456-cb86723a81d4 CLINVAR:9622 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18ecbe1a-963a-4f55-831e-f9ba719a7327 CLINVAR:9622 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af1b6ffa-473b-472b-b9a3-a12e77a2db09 CLINVAR:9620 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b794faa8-dcfc-4061-9193-296e365ef9a3 CLINVAR:9620 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cfbba03-c560-42ad-ae4b-6f3bea4ec3e2 CLINVAR:986477 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9d444db2-7024-4027-8a15-96a971aed527 CLINVAR:986477 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec0ae3f8-5657-4d55-89b8-714429243da9 CLINVAR:9592 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fcf361d7-59b6-47d2-bb52-64b34a36674c CLINVAR:9592 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8679fa29-f2e4-448e-8b19-d31ffacf857f CLINVAR:393097 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da9412fb-ae2d-4fc5-bc4a-de9a25a6f3f5 CLINVAR:393097 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcc4e0a9-9a19-42b4-b0af-7506719df64f CLINVAR:440665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5729bd7-1972-4612-8055-5b1fa80a9cc0 CLINVAR:440665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab15d197-e414-48b3-a86f-a68ebc0ba35b CLINVAR:251094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 409da394-629e-4bd6-976e-f80555017673 CLINVAR:251094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b1c5dc1-aad6-47af-ba36-cb7971ee44f0 CLINVAR:251095 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a813495-aeac-4f3f-9a3f-7153bc0a62b2 CLINVAR:251095 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bced4d24-24f2-4d25-ba26-540101a2865f CLINVAR:226310 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6aa1bac-a8dc-4c9e-acad-429df30034a3 CLINVAR:226310 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbed7b9e-e6ce-4467-8906-2cbfa9b32fe9 CLINVAR:440592 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 581a3604-c238-49e7-bed8-16ced7ac5ae0 CLINVAR:440592 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8975c31d-5ac0-46b7-8e4d-396ef68fffc8 CLINVAR:189298 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ce95126f-1a5b-4392-a4fb-088f01a5f12d CLINVAR:189298 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 476c52ae-421c-46cd-9449-0eeb70d04f62 CLINVAR:251805 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63d811eb-43fb-42cc-b34c-36618d7b3f1a CLINVAR:251805 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 198dec11-dee7-4378-a71a-517907cfca0e CLINVAR:183128 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78e17eaf-f076-4e4d-9ee2-b220df2a45ac CLINVAR:183128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0decdbb-0a0f-4440-a8c9-fac8d1dcd551 CLINVAR:252127 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7229021-49f1-448b-9994-6629e42d2868 CLINVAR:252127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35cb180c-c8d5-4149-8537-eb554240761e CLINVAR:252128 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23f3b374-48a8-4cff-b862-8db2681c7519 CLINVAR:252128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65cf638a-ae03-4247-bdd1-10a9c5145321 CLINVAR:251727 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22757c78-731f-4e43-8f48-0ae14f595627 CLINVAR:251727 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76d2de08-4b97-4408-8485-93ccc913eb02 CLINVAR:252306 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0326b2c7-3447-4986-ae79-ea60de91afb7 CLINVAR:252306 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17c6a5a3-88da-4263-b845-36e63e3c57ce CLINVAR:252340 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10995b8b-6899-4cca-b191-9d14be6c3e4c CLINVAR:252340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0a1a271-d2b6-4a26-9cdd-c2533c2acd77 CLINVAR:252341 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cdde8d8-5944-46ba-865d-f8eb378dab88 CLINVAR:252341 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33b02709-8e8b-40e6-8b84-f47f69e002e6 CLINVAR:161265 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39ae3177-9e27-414f-947e-939f6c87e6a1 CLINVAR:161265 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbc8e543-6602-41a6-b904-948c2aafa487 CLINVAR:440701 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e2313c0-d353-4a21-99ef-cbfe62ce582e CLINVAR:440701 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63393d64-03dc-4122-98d3-dd84f1a90e76 CLINVAR:252141 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a4a0a7e-9d00-482f-9a9a-9803ab28ca2f CLINVAR:252141 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ccb5ce-d0f1-4897-b613-5a6b227a5839 CLINVAR:430757 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8652b88-5e9b-4aa8-8fc7-e7800f26d71f CLINVAR:430757 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77022267-c4cd-40ad-bae5-31d21c064c6e CLINVAR:250942 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a84d472-780b-48e3-8e46-c4fa410c7c2a CLINVAR:250942 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79f4a990-34cc-4940-b8aa-7edf616273b3 CLINVAR:440600 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37147267-941b-4168-ba03-1c6a1413ccb9 CLINVAR:440600 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee225d6f-1dc0-4c20-905f-bcd12739058f CLINVAR:431538 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f886e51-07cf-417f-9ad3-77a872e01e28 CLINVAR:431538 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b53a832-2055-4021-8f57-10e5d76eecb7 CLINVAR:440670 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8f4c1b3-dbc7-4c17-985c-93f7355ca80e CLINVAR:440670 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbf2946a-ab40-45b2-88d1-0905e14f84ad CLINVAR:251489 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c33f5f6-d6aa-498c-a061-db997b9812ff CLINVAR:251489 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b16cc86-bcbb-40bf-ad80-a3ad22ac813a CLINVAR:375809 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2799ebd-a7df-4c77-be1a-cda127580fef CLINVAR:375809 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc5d79fb-d8f7-41bf-a0de-6413f4911f95 CLINVAR:251606 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d093ded7-072c-4744-b3f0-24ba008feb45 CLINVAR:251606 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 055194d7-98c4-48a8-b203-6bf0cace0d10 CAID:CA386493486 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be98bc50-bd78-4204-807b-e3bd9cfb999b CAID:CA386493486 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d36c038-9b46-4741-8cdb-2cc96c8f0544 CLINVAR:102810 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8f0dd5b-3404-439a-972a-d6ecaf67cf2d CLINVAR:102810 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17ad8685-4ef0-4c59-b33d-11f50634d52f CLINVAR:9563 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 679d9d69-adf3-43a1-bb49-9f645158e00f CLINVAR:9563 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fe673cd-5a93-448e-b24b-d8701f0ea95f CLINVAR:9688 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be0c16a3-fe02-434f-af9d-0f5bc5f49c5c CLINVAR:9688 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 603238f2-8a54-451d-99b9-87604271ca9d CLINVAR:9570 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a026613d-89e8-46fd-bf24-4b18216135b5 CLINVAR:9570 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 370fdb64-6d3d-4bb2-b893-0b03c312d684 CLINVAR:9560 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f04bba58-c858-43c2-8997-8474aba22848 CLINVAR:9560 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f61d7f-2578-48fd-9084-110b1138d1fe CLINVAR:2498105 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 809e526b-4250-434a-a82d-7a9bf00a452b CLINVAR:2498105 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4284947a-59ad-41a6-ab42-29e5a553acf5 CLINVAR:2498110 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 627613af-d594-4e6a-8ec2-50d56cd78254 CLINVAR:2498110 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2971f54-a883-438f-923c-4437785279b7 CLINVAR:2498112 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ad08f25-ee77-41df-9b09-5f89e377d9fc CLINVAR:2498112 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f8f236c-08e2-4fa1-b885-2abaafa61190 CLINVAR:2498113 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44a9a472-21f5-4f32-bf21-547bacf25291 CLINVAR:2498113 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a6a1ba3-452d-4a8d-9830-c33d1c83c4a9 CLINVAR:2498114 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1be1f16d-6573-43ed-9d41-a152881080e6 CLINVAR:2498114 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 242ee269-b48d-4978-8d85-fdd4c6553037 CLINVAR:1698837 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 276ad402-360b-4a07-b481-9a10da0a48af CLINVAR:1698837 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e85e887-6917-456c-9111-2172336ef849 CLINVAR:2498115 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9441c4a4-26c7-41e7-9f43-ac2da6664db7 CLINVAR:2498115 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddb6b094-cc50-4acd-8127-f2b27cd59d9e CLINVAR:2498116 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07e9694e-e962-46d8-a75b-eb53da4e3002 CLINVAR:2498116 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a113dcda-4734-4eb8-9f96-858d7ed0f98c CLINVAR:2498106 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eeb63b4c-d3cb-4f59-87b5-d4b304f807a8 CLINVAR:2498106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f94a3f9-979c-458f-9fff-0de98020e551 CLINVAR:2498107 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4f1b9a3-c2ef-4704-911d-e169e614ac27 CLINVAR:2498107 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d59c99a6-999c-4f68-b9a4-ffc44e205f26 CLINVAR:2498108 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f3cb6c2-48c6-44bb-94be-53e10319edb4 CLINVAR:2498108 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92979d9a-5ca7-4ed2-8a0c-46520fb5683d CLINVAR:2498109 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ce185c9-9d32-4fd5-babd-c96bf003476f CLINVAR:2498109 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 418aec62-9bd0-4d83-94ce-fe743cf2ca71 CLINVAR:293712 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dd43e50-87d8-47a0-8f88-5030adc394ed CLINVAR:293712 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70f9d6ca-bbec-4626-84e5-a1e83ac692f2 CLINVAR:133063 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 250795b1-172d-42f5-a5f8-c6d438bc7186 CLINVAR:133063 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb1efb3-f1ed-4c1a-8953-202c006b4ad5 CLINVAR:133059 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b574639-fd52-43c6-80b4-03ee7c72b996 CLINVAR:133059 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 119f8ee2-88ef-4ef0-b8f8-a2ca2627cb60 CLINVAR:133069 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f49ca869-d836-44c5-a17c-378f6ce9f3d1 CLINVAR:133069 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c932ea3a-f7ba-4d02-ac94-e2bfc675d891 CLINVAR:1213826 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2191284a-3633-4bdf-bb9c-9fc9fb3b0854 CLINVAR:1213826 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b24adec-f0f2-4c85-b5d5-b5665e9dbd20 CLINVAR:224402 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fcd5595-ba02-490a-9be5-571c152c8ef3 CLINVAR:224402 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0661ac4-52e7-436b-9ef8-c47912ef7717 CLINVAR:1018682 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 668cadb1-f483-434f-bffa-5f92e935478c CLINVAR:1018682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba9becdc-688b-474d-85f7-c20210ec45c6 CLINVAR:141972 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0568f496-6fc4-4c69-ac02-a5009aa5387f CLINVAR:141972 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fef7d53-c9d8-46a4-b064-373700532b68 CLINVAR:830187 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fcae344-2774-47b8-82b3-65202e556d23 CLINVAR:830187 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a785463-e1da-4d8a-b8c9-6e2ed48d16ab CLINVAR:232594 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc86d0b2-22e9-4515-b732-1cf81f841918 CLINVAR:232594 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbefd5ed-dcc1-4e64-9566-dc56a9b73edb CLINVAR:492220 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f2d0fb9-fce8-41b8-a81f-b1292d720486 CLINVAR:492220 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acb111d9-c1d6-4131-9bc0-26b9262fe907 CLINVAR:944799 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 963501bf-2195-4b47-9d91-e21c1a8c3b35 CLINVAR:944799 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc172da2-c3f1-45b8-b185-83df66e78661 CLINVAR:580962 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd78917d-6a43-42ce-93fc-ae7433790c8d CLINVAR:580962 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5821c22-f9ee-4622-8db0-1de830874bd0 CLINVAR:241572 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1694cc2-8467-4c4f-9cc6-b58cf4827616 CLINVAR:241572 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c143dc1-2939-4234-9f39-314560e09c6c CLINVAR:657328 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 426dfa57-bba2-4744-bec8-345c6faa9152 CLINVAR:657328 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e4e58c-a290-41d2-bac9-411e72c65cfb CLINVAR:818335 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0c694cd-a13b-4ea8-9f12-d15a2aee6f01 CLINVAR:818335 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 091d8e4c-ac2b-4fa7-bc08-e564f3a74901 CLINVAR:185108 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67ada081-23e6-4ff1-830e-8446ef829c91 CLINVAR:185108 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 610911ed-2243-4e4a-9c2d-5dc699d46940 CLINVAR:126609 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd5d1e55-e1f4-40c0-aac5-b3931a60cb88 CLINVAR:126609 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e594444d-ddab-4af7-9ff6-68c7d2b9d0a7 CLINVAR:482029 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e45dd23c-beab-4312-b3e0-276ad86a69de CLINVAR:482029 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 350c741f-f04c-450c-858e-2f77c7fb6ba9 CLINVAR:143966 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c9582d3-3809-4ca5-b695-31bf3904bfef CLINVAR:143966 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af7dc10b-5812-476e-84b4-e89193eff3f0 CLINVAR:186990 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ffdf178-e608-4a8a-82ff-2f4cc2ddceed CLINVAR:186990 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08a3212a-e769-4cc7-8274-a362972fb2fb CLINVAR:126660 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67b06830-78dd-40de-8ae0-d96debd301da CLINVAR:126660 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32c6be37-443c-4894-bcfc-13f3c8477b1a CLINVAR:2498117 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfe926cb-225b-49fe-a321-a79416bd2db0 CLINVAR:2498117 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57b1c1d0-fba2-4e20-8b08-e9987e518f95 CLINVAR:1453402 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8445c94a-b6d0-40c1-8815-6dc025428e72 CLINVAR:1453402 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a70224fe-7e72-40ea-911c-80aadc915ce6 CLINVAR:187262 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04856452-6d15-4e70-bde8-b35abecc7367 CLINVAR:187262 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f6250ac-4e04-4a57-8686-fa28b9374c1e CLINVAR:232977 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c23a3b3-3532-4497-a4ac-93ba7f28c77e CLINVAR:232977 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09dccdc5-4293-4857-a48a-a81016b56f72 CLINVAR:126711 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92f3008c-52cd-49ae-b9db-3f72a97a195f CLINVAR:126711 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e02efc25-0797-40f4-8ffe-f4c8bf736691 CLINVAR:126737 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 927fa6e2-484e-46fa-a2c2-1c78d674afea CLINVAR:126737 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aba4c489-e4f1-46a1-95ce-fb3a5e00e9b2 CLINVAR:126739 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e02e966-bc2c-463b-8ed6-b5a839b303cf CLINVAR:126739 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3274706-ff56-4587-a046-a1919d8b20cd CLINVAR:2498118 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d19beb81-7c7c-4d7d-8d75-98b2969d8e9c CLINVAR:2498118 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c4fa99e-e82f-4ae5-b46e-d4fe28faf5d5 CLINVAR:128144 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9ba424b-6863-472e-ae2a-cd1e46335f98 CLINVAR:128144 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35af4330-5003-46ca-8e8d-4546a9425fcf CLINVAR:186820 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0512e05b-1b36-4213-bd58-e6d09d3ac4af CLINVAR:186820 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6a5bd05-c4c3-4b72-ba69-6b23c2780515 CLINVAR:461007 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62d94878-d41a-4724-ae99-2f6980618061 CLINVAR:461007 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eba125b-3cbd-48a6-8cf4-781c7094d974 CLINVAR:484222 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 681ee8ed-2433-43db-8bee-4b5b57c301ff CLINVAR:484222 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e13a636-bbc9-44a2-bd31-2cbe4824117f CLINVAR:241571 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6ff2368-82a8-4048-8ea3-a1c4bbe8e1ab CLINVAR:241571 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce96ba12-ca42-42eb-bd79-5e7cfc14d043 CLINVAR:410148 biolink:genetically_associated_with MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a941aa7-4508-46a4-9a81-ff111560d5b8 CLINVAR:410148 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fda35c4f-4f6f-4166-89a7-b6724d278f6f CLINVAR:480243 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 845cf972-a0fa-4c5a-b0b3-ebe1cfda46fb CLINVAR:480243 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9a13819-e29b-487c-904d-e5326c4f74fa CAID:CA399789759 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d6f8234-465b-47d8-9eb8-77fafdd71cbe CAID:CA399789759 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 772c5f30-5d2b-4f97-a3cf-f7c6c874510f CLINVAR:2498366 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d60fe9d4-b85f-4889-8b11-78d7dfb52e10 CLINVAR:2498366 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 093bfdae-2399-4f2b-bc39-4302ea45c09a CLINVAR:2498367 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f77165c-eba9-47d4-af27-d529e48abe18 CLINVAR:2498367 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbae04a1-cf07-4f19-9f6a-abf4272931c6 CLINVAR:374016 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c00d2ef9-3c92-45c6-80d0-87a2abdd5a2b CLINVAR:374016 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa711730-035c-49e8-8651-892fe80c1f67 CLINVAR:374015 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89b8a472-43d1-4878-8cd5-4ff108a008b1 CLINVAR:374015 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77bb7c4b-75ed-4e00-b05e-3d65a1eb52bc CLINVAR:2498368 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b56783cd-b603-40b4-aadb-985830126567 CLINVAR:2498368 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d778cb8-39f5-4239-a140-23c301e50048 CLINVAR:2498369 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 430f0311-399c-4f8c-a629-95efb58152a4 CLINVAR:2498369 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d8a5bd0-d02a-49a8-9a6f-8280b57969b6 CLINVAR:2498370 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d14400d-e449-4607-98ea-b6a3903e9ff7 CLINVAR:2498370 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6da8328e-f5a9-4479-b760-4d82f800b0bd CLINVAR:2498371 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5b59995-8ec1-4ed1-bdbb-69d2831e1d17 CLINVAR:2498371 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f283c6ce-f8e7-4a5a-9658-c1c2643ea716 CAID:CA626684826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca08ddd0-cbda-4c45-9190-37712c8b02a1 CAID:CA626684826 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e71cc62-055a-435c-b3b9-0ea3b89c0b28 CLINVAR:133058 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0c13d42-f614-49c1-a211-dbf91054699f CLINVAR:133058 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69e2c4ce-d629-4d1b-b268-974bd58b713b CLINVAR:474888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be16629d-21dd-4b23-8706-d8b17db92aa6 CLINVAR:474888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 113821be-7321-4f10-8833-44d1a4579d39 CAID:CA891834518 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36a2ef11-1f4e-486c-9507-9bd80b43ee58 CAID:CA891834518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 797fe3e7-3349-4bc6-97c2-8e13961b5316 CLINVAR:932828 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24f21fae-ff7a-4e46-8d80-cd3cb5ae10fb CLINVAR:932828 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7be3e6e3-c816-4dc0-b962-235cbc166438 CLINVAR:252000 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dab24519-e262-4c27-a2de-4ae2fec04e48 CLINVAR:252000 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e32f9b90-65d9-45cc-a1b5-19ffe74d4e35 CLINVAR:406163 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a20dd21d-3099-4a11-a4bd-9fc3a5537c41 CLINVAR:406163 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d288020-da48-4ac7-a7c3-87e9d3ef125e CLINVAR:226343 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcac5678-f97b-4b96-a869-387801df27f5 CLINVAR:226343 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f503e998-4691-4b17-84e1-06eff96393de CLINVAR:689349 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb61031e-a7f2-469c-8aa4-75fae543720e CLINVAR:689349 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5a06426-1ccb-4506-b367-19404e061e2c CLINVAR:440698 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d976f45-d07a-43e9-95e3-ae51ac98cbb0 CLINVAR:440698 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af8e970d-4a6a-4a4d-aad7-1e2e594f0998 CLINVAR:440697 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc5ec17c-5426-4b39-bf6f-e559384f6bb1 CLINVAR:440697 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 268af585-4378-43a6-914c-48e0ba867683 CLINVAR:252321 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e27026ec-adf1-487c-a6ab-31a0c8986334 CLINVAR:252321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0853b7f5-55af-498c-9cfa-3870b9f796f8 CLINVAR:251850 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e25b8b78-b551-4ab4-9033-8b53d8b549ec CLINVAR:251850 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d481ca-e168-4c48-8156-357c31e4558a CLINVAR:440645 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca600788-f8b1-484e-b495-40d31cecd168 CLINVAR:440645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen decc66a6-56a9-488b-8818-31c6ccf80b34 CLINVAR:251847 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aae3db90-9e2c-4f93-a896-b1aae345b891 CLINVAR:251847 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0816166a-3339-4ae9-a7b4-663e968c7a0b CLINVAR:440646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ca45004-b425-4b60-8039-d2e3429cd9de CLINVAR:440646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0b9a573-0ca2-4356-8207-64533e3a387f CLINVAR:430740 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5298555-6b88-41e0-b1bd-7ec9dfab457c CLINVAR:430740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df529ba8-945e-4667-9822-63454ef6b990 CLINVAR:251649 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98cf783c-f501-4e8d-bc0b-e3478d565e6b CLINVAR:251649 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc02b353-4f13-42a1-95d4-5f5ff84403e6 CLINVAR:431519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f28dbfb5-4c8b-4186-8980-31b16e94e66d CLINVAR:431519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cff22410-eb25-48b7-8ebe-1d03a4492e23 CLINVAR:251651 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 984f4e2d-a510-4e78-93a1-dd640e734b9a CLINVAR:251651 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab1b0612-b614-4442-9689-4d25beec63fb CLINVAR:431508 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e6d425c-89a5-46ae-a4be-f68e86c86ac9 CLINVAR:431508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0870c7f4-8fe2-475e-979f-e3b1bdcd5d48 CLINVAR:251127 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc2f1e3e-294d-4d1c-ac90-3c0bc8568e20 CLINVAR:251127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0649d06-49c4-46c9-84f8-876da8bb7fab CLINVAR:251537 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae92b2a3-bf15-4c47-9d22-2bc0acdeb1cf CLINVAR:251537 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4384ec60-b59e-4988-bc23-44fa128ff168 CLINVAR:161280 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17c58049-fd76-4b70-8189-7d4c6ee21b08 CLINVAR:161280 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7c80f31-dcfa-4212-beaa-eaab35298e27 CLINVAR:251519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f3b63dc-7fa9-4ecf-b1c5-1cb302ef8507 CLINVAR:251519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9bfce10-3dcd-4bd2-946c-f64d12185240 CLINVAR:1437514 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07afdd6b-3ee0-4f4b-be28-be178797ea26 CLINVAR:1437514 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cad4d422-7ba2-461e-9b33-02c104b93008 CLINVAR:251521 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c921b2f2-fa5f-4369-8273-fcc607168d7b CLINVAR:251521 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6135b0eb-abe8-437f-b167-8ff2b526b7cd CLINVAR:251081 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51316108-008e-4393-a296-37c0c787491b CLINVAR:251081 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c5f277-7cb5-41e4-b937-e68f18369e72 CLINVAR:1331775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d2b667f-1beb-495c-8f8a-e68c6c699aac CLINVAR:1331775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e72eac-8bd1-47e9-9321-f920ee5f1d4c CLINVAR:251362 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b64b7ec5-202f-4b51-a151-acfab65dfc31 CLINVAR:251362 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69334974-6226-47fb-a8a9-6a1bb7366a84 CLINVAR:440599 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 148afdb4-03a7-4b2d-8047-7960330eb2d1 CLINVAR:440599 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70713b4f-47ee-4be6-a074-1cb0edf117a5 CLINVAR:417370 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8dcffe4d-44a2-418f-9692-5b1aa7b32b1c CLINVAR:417370 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a399ffa-f698-4777-812c-6b6cdb0760a8 CLINVAR:369855 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0507e856-899d-42d0-a146-936407d86846 CLINVAR:369855 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49a46653-40d1-462e-ad5d-ca24474d6cd8 CLINVAR:431513 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4a55907-f5b8-472c-b673-b2d774fb675d CLINVAR:431513 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1943ff0-0d40-4aa3-8cff-b1796f1f4185 CLINVAR:251223 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6f8f876-0c6b-441e-b162-44d0bb1eeb63 CLINVAR:251223 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d29b2f01-8ae7-4593-ae3e-ea74fb7ecce8 CLINVAR:183098 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25e8dc5b-ec50-49c2-bb79-03ee773eaf63 CLINVAR:183098 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 814e5b58-f566-4b87-b5fd-aca71c521938 CLINVAR:977996 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 643ae2ce-8c9e-467c-917b-890356187688 CLINVAR:977996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2f93291-a66f-420a-ad6f-0b6a741bd009 CLINVAR:977997 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 641ba8f9-eea6-42e5-8627-4fd0cd2cd422 CLINVAR:977997 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe697caf-dfee-4c82-9590-8b945a50f63e CLINVAR:1466547 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23590f2b-6f1e-488c-9dae-47a0083a3c20 CLINVAR:1466547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8ed1308-a172-4574-8e70-9ef41acb2e40 CLINVAR:431547 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fea60f6-978c-44ca-9e7d-0efe6f10d644 CLINVAR:431547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 445115f8-c6ff-4b05-8e7b-a902b7b63200 CLINVAR:251691 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9539fa79-cdbc-4289-8f99-9545b698d3dc CLINVAR:251691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e829873-4ee8-42ee-b2a9-220cda4f94f9 CLINVAR:440626 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cfbc439-5828-4d7a-92af-2ab486a64c2e CLINVAR:440626 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79da960f-9571-491e-97c7-eabf7666f459 CLINVAR:251692 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 097fef29-8ba5-45b8-8a7f-bd3014f7e9e5 CLINVAR:251692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f67c86cc-34c1-4077-81dd-468dd8192504 CLINVAR:252120 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04bd70d1-fc78-4a42-abaa-eb8efbcf704a CLINVAR:252120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e3ece1c-f707-49c4-be2e-fed5a6d23a6c CLINVAR:183106 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecc27a4d-2437-428e-88a1-2971287e8370 CLINVAR:183106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ac64008-695f-47f6-81d1-eead267d4a68 CLINVAR:440618 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7ec0a8e-a196-4fc0-90be-7465c8b56917 CLINVAR:440618 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6ee685d-eff2-46b3-b492-75eaec744195 CLINVAR:251605 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56224838-c1ca-495f-82b4-5058ab9a0506 CLINVAR:251605 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c057aeb-08bd-4f39-a353-4b7340ef99ca CLINVAR:251406 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe17c6c5-e643-4759-8589-9bc905b36de0 CLINVAR:251406 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e90a9900-3f91-4b47-b804-6575aa128998 CLINVAR:440623 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7331df5e-88fb-47ee-8baf-4f201c6a0131 CLINVAR:440623 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 415e9a21-6f97-4e13-9400-d3ea72e966ab CLINVAR:251645 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b58d0dc7-781e-4289-be1a-4d98a1f62f3b CLINVAR:251645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63fcf64-5d94-4f05-ae16-e95ce2309c15 CLINVAR:183114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87e12fae-d73d-43fe-9a41-d32c6a0f7a05 CLINVAR:183114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b68aab5-c090-4358-ae76-b29482953840 CLINVAR:226332 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df9c33c9-8157-44f2-a36a-353f3227daea CLINVAR:226332 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 225cd8c2-ec2f-4dd9-8890-68873aa8f97f CLINVAR:251735 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f27461c0-173c-47ce-952c-ab88b6049c59 CLINVAR:251735 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87ca44bc-96cf-48ab-a577-1fb64ac5d394 CLINVAR:431523 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 489b8602-2a17-4e1d-b632-9d3f6aab2f88 CLINVAR:431523 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 406cd7ef-e3e6-4933-9913-bc3435e80cc8 CLINVAR:369861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0918a7d6-f826-4f4e-bd73-80b3d4cd988b CLINVAR:369861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db231727-a956-4492-835f-163e5638f9fa CLINVAR:252033 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce5c7ce5-a129-4f93-8c1b-086e97779316 CLINVAR:252033 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6617249e-e94a-41e9-8ee0-940b5e62a82e CLINVAR:252032 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77e93b5f-26bf-441f-bfd4-c37b658130d9 CLINVAR:252032 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 068a67bf-5b08-417c-b6a7-06d56840e0b1 CLINVAR:226402 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df510092-6dc9-4733-a67e-291029541e15 CLINVAR:226402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4955edb4-8afd-4a8d-be59-a85cf81d6e80 CLINVAR:251425 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7ac36ab-37f6-4e93-9ab6-e65e7deeabf6 CLINVAR:251425 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a46295a4-f47f-4db1-9976-95a61fc580a6 CLINVAR:251121 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dfba5d83-c32d-494b-a57b-948098b62865 CLINVAR:251121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe79926d-7e02-433f-804c-b1f0bef15dfe CLINVAR:251122 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5cededf0-64dc-4e86-952a-7e18c3836752 CLINVAR:251122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f0b470b-5275-4225-91fa-d2dd51ec202e CLINVAR:440556 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bde25680-3c8b-43ac-9bf5-7e7da4e7c6c1 CLINVAR:440556 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0fe490d-b81f-43ca-bb8a-737b9455c55f CLINVAR:251583 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e12ca3df-cec5-49c9-a660-919e0809da43 CLINVAR:251583 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4ce2d03-764c-4fad-9d39-aeb8003e48c7 CLINVAR:918325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4b9b242-418c-4f62-860e-e17026e0f7b4 CLINVAR:918325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81466cc4-273d-4c19-a236-fa77816f589f CLINVAR:403665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b43e5cc-79df-47ab-8252-b5e4445c28a5 CLINVAR:403665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eb73244-98d6-48bd-afb2-6090d3e64da7 CLINVAR:36452 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da324d85-5759-4dd8-87cb-70ce31343905 CLINVAR:36452 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e8b2e0-573e-4709-bb72-38d5c4af6729 CLINVAR:183083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 930e56f6-ff28-48e4-9872-ed71bc657124 CLINVAR:183083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f945c10-4e91-41f9-9215-2db8d2e6d2cc CLINVAR:251088 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83993b9f-57d6-4674-9764-6e8f75900545 CLINVAR:251088 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 845e23af-4eec-40d3-a9ac-b1154898adca CLINVAR:924271 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5a6b157-31b6-4189-80b4-179d2828dba4 CLINVAR:924271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70e4238d-20f0-452d-90b5-94b4a39e6fa8 CLINVAR:251828 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d62633a-9b36-4c11-a4a2-002df47a748a CLINVAR:251828 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f10053ff-346a-47f8-a736-81e8e7f9ba27 CLINVAR:251894 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b86d4184-017a-43c9-8fa2-dfb3a920eb5f CLINVAR:251894 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b334d068-1b68-4159-b8b5-79ec31c7e7d5 CLINVAR:183105 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37605369-2153-42b4-826a-6ab02db13ddb CLINVAR:183105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef115713-e8b4-4bd9-9365-811523eb2b59 CLINVAR:926520 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a2171af-3942-49fd-a9ce-9b637d770c44 CLINVAR:926520 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7111998-b89b-4fb9-b362-0d4f4e241274 CLINVAR:225181 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac3b32c5-0a31-4832-aaa1-5c3456748709 CLINVAR:225181 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0f5ed0e-71d1-4ade-b3a3-01fdb41de589 CLINVAR:251587 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbfca5d0-b6ef-4f11-aa44-0246603198ba CLINVAR:251587 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86b09abb-d285-467a-b1c3-f3f439d257d9 CLINVAR:226299 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4352eae7-439a-4dd1-a64f-328647e33409 CLINVAR:226299 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f84869b0-2df0-4dc9-96d9-471193ab6c95 CLINVAR:1395739 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7431639d-32cb-4479-af0f-0bfed076b32a CLINVAR:1395739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 458bf852-1494-40fd-977c-c166c622be5a CLINVAR:2500836 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0232ce6f-b792-4feb-acdd-48351c35fbb6 CLINVAR:2500836 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6b43ada-a912-49c5-9fa7-f5c254d02879 CLINVAR:2500835 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b84d8ac5-5f03-4c1e-b7d7-12f5eec14073 CLINVAR:2500835 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e19ec1c3-d7e8-4cdf-aa1d-d41e4012c2bf CLINVAR:2500837 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9ac95d3-b7de-4949-b1a5-55f1210fba64 CLINVAR:2500837 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c61aa2f-1375-45f8-a6de-ae7eb64809b4 CLINVAR:806282 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90d94e31-bfd8-4723-8d39-e7046c59495a CLINVAR:806282 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb457c84-7c68-457e-b04a-e1970b8b552e CLINVAR:2500839 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef738273-8275-4625-8cc6-3175ffcd4067 CLINVAR:2500839 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a92b732-b6e5-4568-af05-0484c5b22a82 CLINVAR:2500840 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53ce258e-d03a-4254-8008-da88636d31b4 CLINVAR:2500840 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9da2fd87-c483-4eba-b3c3-ece538ded1d6 CLINVAR:2500841 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d581e45c-9ed2-4a63-9281-21e1c41f0e18 CLINVAR:2500841 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 681ddbaf-701d-4520-aec8-b2e8c27b03e6 CLINVAR:875032 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76f73e9e-ad09-4f79-ab8a-8023b19d2bfd CLINVAR:875032 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2961a19-a590-4c34-975c-ed754d984a8b CLINVAR:1173106 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a10b0e5-8860-4617-b497-1cef5a81f84b CLINVAR:1173106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd83207e-d1ce-4d9e-a20d-87892bf9163b CLINVAR:2500832 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26e0a3a0-465c-4e98-8ae7-163ad7109ff9 CLINVAR:2500832 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37318106-ed5c-4a39-be67-0ab6041d9589 CLINVAR:2500833 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2940e804-b4d9-4658-a95a-5c49e43d9326 CLINVAR:2500833 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a98b8a0-3c35-4604-ac55-c788c5a8c64a CLINVAR:1048923 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79d957e2-6eaa-4d39-8823-c1d4616f70f5 CLINVAR:1048923 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e041e5d8-82ce-482a-9063-a8da7ad4ddcd CLINVAR:1302992 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7eb0d42-c6d0-4b18-b93e-663608670069 CLINVAR:1302992 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 734bc30e-b849-458e-bff9-8a4f818b68aa CLINVAR:877000 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0074c947-1464-44d7-84ee-a76a8479610d CLINVAR:877000 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0805628-9c64-4024-8d1b-d138d3336b85 CLINVAR:2500834 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 235e49b4-a9ab-48a2-8ef2-ec4619bbd833 CLINVAR:2500834 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbb93a96-62f4-49a9-9432-7e486e915645 CLINVAR:431972 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3ac0f76-86a5-417c-90d2-269a7333c02f CLINVAR:431972 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55d19b1d-58b6-45e7-86e7-324f23124578 CLINVAR:242139 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 518629e7-f95c-4c92-b011-03c2ef5f3c7e CLINVAR:242139 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d43af4c-f328-48a2-943a-02258d449291 CLINVAR:479634 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d8c1d22-2ae1-4118-914f-c35037c89423 CLINVAR:479634 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35152d4d-7da9-48a3-9bd6-583f54c0f473 CLINVAR:825798 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b75f578b-9481-4b7a-a666-8402774bb373 CLINVAR:825798 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f0c1975-76b6-4ffc-ba69-1622ae5624f4 CLINVAR:825790 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0027518-eba3-48f5-a796-ccadd1e904b1 CLINVAR:825790 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d82362f-0417-4783-a57a-c355843c185e CLINVAR:825823 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abdb279c-5e46-461b-9bb3-4816a4d920e7 CLINVAR:825823 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9374d22-69eb-41bc-8f4a-b3e59f35075a CLINVAR:479625 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b64dd8c-4a5a-4de9-988e-edd6eccd15ef CLINVAR:479625 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3145aae9-c8cb-48dd-8fd8-c4f84676fe59 CLINVAR:2506404 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7004f4a-4bd1-4a43-948c-e9c30f229fbc CLINVAR:2506404 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e23cbece-372b-473a-af62-aadc5899f385 CLINVAR:2506405 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2e38ab9-da0a-4872-aa36-b9914c8c2df9 CLINVAR:2506405 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc04c13a-e00e-4767-811f-5e2784dc8b98 CAID:CA399795582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1dc6686-bf6a-46da-933c-3e73c648fa2c CAID:CA399795582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd1f1116-15dd-45b3-91b0-84f38562a2c9 CLINVAR:2506407 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4cbd9a7-03cf-49ca-90f4-2b8c5a0ec179 CLINVAR:2506407 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34122fb3-f15b-443c-b6dc-8d5550078c7a CAID:CA915940265 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc290af5-4045-4623-acda-452010a92336 CAID:CA915940265 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3bdb83f-ee15-4e09-9a3f-77bb8963fa8d CLINVAR:2506409 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ce82ff1-a965-4591-bdfd-c2afb373e413 CLINVAR:2506409 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 580613e0-ee5b-451c-ad46-97ecd9464abe CLINVAR:2506410 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 777ed43a-b441-4927-b596-a7b626fe09dc CLINVAR:2506410 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 739aecef-755b-4151-adc0-9c41eb0c233b CLINVAR:2506411 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4c5fd7f-5fbd-4c5e-a2fa-52dcadb85332 CLINVAR:2506411 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dde2a1c-5831-40f0-9903-39e87ac6fb45 CLINVAR:2506412 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4103d9e3-acd0-47ec-b85c-177e8735d8c7 CLINVAR:2506412 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8e1fd0c-6dc0-4ef5-9d6e-073dd3532087 CLINVAR:9590 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 663bb172-a84c-4190-8ace-62d048666f54 CLINVAR:9590 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81b635a3-ae7e-4971-9944-39e1b4cfe4e5 CLINVAR:30004 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b28b6ea3-8e27-4b60-88d7-561eb552ae20 CLINVAR:30004 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94cb8bcb-2f50-4f89-b217-0a4957dfc762 CLINVAR:9569 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a03e7c42-3586-4f37-a7ef-a7b316c89120 CLINVAR:9569 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98500895-ea7e-48c0-a4d5-0e1819137954 CLINVAR:693062 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c0e36a7-a498-4119-abc1-6d3f1372a018 CLINVAR:693062 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3403d532-61c8-4df9-a31b-776ee4af5a75 CLINVAR:9722 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32cd27fd-b345-4860-8c19-9d81335e271a CLINVAR:9722 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96dbee14-5914-43b3-9ee4-2de93184bfb1 CLINVAR:133144 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60b75083-d649-40a9-a6a7-249f8ee9408a CLINVAR:133144 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2951e6ae-1eae-4fd4-b056-9fe4a5254d00 CLINVAR:932844 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af99eada-ef5f-4869-909c-2f5b269198bc CLINVAR:932844 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53b0ded-17c8-4cc7-88a9-3da449924482 CLINVAR:810628 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3db3cb3e-808e-4fd5-b359-80ca2ef399c3 CLINVAR:810628 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7672cb45-a059-4c92-8e9b-eec567e1d7a3 CLINVAR:1312506 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abc35a0d-f3eb-4639-87e9-09fe8a043086 CLINVAR:1312506 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a39cffe7-7c63-4477-a70d-2efcdc690f5f CLINVAR:8304 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bcc68baf-d032-4582-8940-8a712378c557 CLINVAR:8304 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc19f79d-79fa-4cdb-9342-387556c9fa4b CLINVAR:1067935 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba9240c8-f17a-4eaf-9b61-216dcb8fa1ec CLINVAR:1067935 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4649aff-1479-44ee-9f95-8d5f9c946106 CLINVAR:2570636 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26958275-30cb-4064-a304-6e98fcc80a9f CLINVAR:2570636 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f234c2ac-2b12-4619-a100-3c4925f08480 CLINVAR:939221 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bd8ecee-44dd-4e27-8cf3-0187b04b0f35 CLINVAR:939221 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a7825b7-e3b0-422d-bad0-8582abc7690f CAID:CA504731701 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 032d37a0-c4db-49ad-92b5-a71f79ece31b CAID:CA504731701 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aeda6a7-429e-4676-bda6-b9fbce9f96f1 CLINVAR:2570638 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fe2da55-bf48-4486-89ad-b0683f1fdd37 CLINVAR:2570638 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c0b137e-fbe7-4390-83f5-ae8b9fd3bac5 CLINVAR:2570639 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e63f4c5f-52c9-4085-97b1-93f6345bf05a CLINVAR:2570639 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85ec62e4-e249-453b-b315-78bbb014d718 CLINVAR:2570640 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86e3c704-c5bb-435d-b92d-a1d550a88c73 CLINVAR:2570640 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c296df-1e71-40fe-9d57-7c88c6f49fa9 CLINVAR:8303 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d0bd2b4-20ff-482a-bdf2-5d9d3210edae CLINVAR:8303 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f682d06-5e2f-48aa-b173-000d89112dc9 CLINVAR:947458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c562590a-93fc-4dd0-87bc-67c87c4110d0 CLINVAR:947458 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e8d0c2d-7e45-4911-9b90-426e1edd73ea CLINVAR:449690 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36242ef6-299b-472e-98dc-7908f610b669 CLINVAR:449690 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3019361d-4c67-41e5-aa36-7dd70032e51e CLINVAR:1361089 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8c94cf6-4d55-42b4-96ed-c89bdd930d73 CLINVAR:1361089 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 645f4205-aee8-4ce6-a1a8-74b2bf7d809e CLINVAR:2136533 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5de88665-b0a2-4f30-bed2-a85107fe4e5d CLINVAR:2136533 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 431f0c42-6748-4e8d-bd76-291d2cb67209 CAID:CA2018007653 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea5f5e14-965e-4d83-bc46-6fd1f865911c CAID:CA2018007653 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f086e120-c92d-4ae7-952c-48f79bc4d6b6 CAID:CA367401305 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6bda847-7ca5-454d-a640-a1bfc880c775 CAID:CA367401305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29d55095-30a9-41f8-a5da-d11fa92afaab CLINVAR:36224 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d394300-e85a-454b-b108-272d562958c7 CLINVAR:36224 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c9fe726-86c9-4b57-bdea-71e968be2713 CAID:CA367402542 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b6220a6-1023-49e4-aafd-b7801509286a CAID:CA367402542 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a5bf599-a60e-4662-a8c7-85efff8bcbbb CAID:CA2573102977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9576eab3-4953-43d8-b17e-2f65d76fa905 CAID:CA2573102977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a35608ad-9a1b-4919-9b21-d8770960ebfc CLINVAR:2503894 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93d6a8ec-6f82-4774-aee9-e1a45e1b0f96 CLINVAR:2503894 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28408697-f950-4ac0-ab75-acd64f2ab443 CLINVAR:1299751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3401e2aa-2a02-4014-9a27-fd940176a120 CLINVAR:1299751 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e035b029-193c-4cf3-9e84-f92434870b50 CLINVAR:1299750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14440e95-7245-4053-bad7-781c3b500285 CLINVAR:1299750 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb3ba00a-4c9a-406f-a924-662b01a77619 CAID:CA409103994 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63116c78-c103-4212-908b-531ce6d56b7d CAID:CA409103994 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73088ece-43a9-4893-a9a0-f845554bb892 CLINVAR:393110 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b29e4040-e3dd-4e21-91ff-48e90bd88b11 CLINVAR:393110 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 078a7937-2e85-43d7-8d22-849884fd9b5b CLINVAR:447515 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 585293c0-b6a7-4d97-b14d-2b70abe54208 CLINVAR:447515 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8972adc1-7de0-405d-91da-e3a6a6509e5d CLINVAR:36348 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b7e1680-a419-4acf-96d8-3f3ec1a5e56f CLINVAR:36348 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14558000-342d-4b04-b18b-8964d503711d CAID:CA409104377 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 529887f3-d345-406a-8c37-c5de4ebbfb21 CAID:CA409104377 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a39f239-567a-41d8-8cf2-0d351fb36b7d CAID:CA409105868 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 413ab9ab-c852-4fde-bcd1-ec5aba54dc0f CAID:CA409105868 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b802dc-fb8c-4643-99c9-598c49503d57 CLINVAR:9215 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7467a38-e1e4-4cb5-9186-a126deaf883d CLINVAR:9215 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16913070-f09f-4b79-9931-b2729923a119 CLINVAR:36356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1cee4149-aa8f-4b9a-a255-de112a3c0894 CLINVAR:36356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bf9ba8b-de53-4c3b-9830-1bcee893887d CLINVAR:1700660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7357664c-8375-492a-8df9-8b3b1f2ce560 CLINVAR:1700660 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 295d4c0c-eec0-4520-9494-a385962e1482 CLINVAR:586021 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 895a6ded-893e-4b27-b616-4e7f90c5645f CLINVAR:586021 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e32606b-5d17-4829-badd-fd1c91191426 CLINVAR:972810 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 819c1e45-7fb3-44d4-b077-21b258c79dee CLINVAR:972810 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 701fe2f4-9d8c-4031-9fd2-07bbc54e53ef CLINVAR:36344 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15478be4-9121-4f6b-b3f3-b75c821ae9c5 CLINVAR:36344 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29f3099b-4d0c-4bad-816a-acbda5900da8 CAID:CA409110466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 994c5437-74bb-41ca-a700-3c2117c05c39 CAID:CA409110466 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b624c6dc-ba4f-4931-8007-c94e31ad5ec5 CLINVAR:875084 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen deb3d77d-affc-427b-995b-5ca8558fe7af CLINVAR:875084 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaad1b81-2d3e-4bca-92eb-2a5d17af6669 CLINVAR:2505289 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 067df937-3b22-4329-9e81-25985e1c1b5f CLINVAR:2505289 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc9354cf-0d18-48bd-9718-23cc492529f8 CLINVAR:293710 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46966188-8a2e-46be-b5e7-6d450a412f3c CLINVAR:293710 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f846b99a-b99c-4024-b5c8-d5399ff6bf5c CLINVAR:2505287 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b67a0234-8537-4b10-a284-55db8a944570 CLINVAR:2505287 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d945ac97-8c05-4e70-afc3-f599ec39bcdd CLINVAR:2505286 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac2182dd-e3b1-42e1-b5cd-e2f306dc5110 CLINVAR:2505286 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d893715f-1312-4959-a6da-47e3a9c5552e CLINVAR:2505295 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fb501be-547f-4f13-a97d-098f4fd11e9d CLINVAR:2505295 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9b3abaf-4934-440b-bf45-b4252e4958b2 CLINVAR:2505294 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 776281ff-293b-467c-8363-92fadf42d5d1 CLINVAR:2505294 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b5f93f0-02b6-4f20-889d-cfb7bd219185 CLINVAR:2505293 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbdc1d4a-2e20-41f3-88bd-4ca680c65caa CLINVAR:2505293 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 238778af-7fd0-4615-94cb-605a8a9c523b CLINVAR:2505292 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9614f1cb-37a9-44e8-b0e7-c52e77b6a6ca CLINVAR:2505292 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea80594-8483-48ef-916c-c6d0dc2c26d0 CLINVAR:2505290 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7967e2b-da0c-4181-affa-1f8068a507da CLINVAR:2505290 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 500038e2-2b8e-409e-9aeb-51ddd5af70f9 CLINVAR:877041 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06faf30e-ae6a-4e7f-b652-44891877ba92 CLINVAR:877041 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50ddfccb-fe56-4882-bdda-d60ddc168d48 CLINVAR:1324771 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7656061-8702-4569-8753-55e573c734dc CLINVAR:1324771 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd7805a6-da18-4b1e-8571-8fa8664ba8e0 CLINVAR:701285 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d41e58fa-8e16-4195-b163-436d49fb7a11 CLINVAR:701285 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ae2eb3-d3e3-4d90-95a3-c2bcba6f4418 CLINVAR:627234 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b37c8c0-2c5b-448f-9cc1-5916062f69d3 CLINVAR:627234 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69bc5879-d7ae-4d7c-9d59-1ac318f5e63c CLINVAR:2506413 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 459ca466-5feb-468e-9995-2d0a04011397 CLINVAR:2506413 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6c5eb50-9d30-4298-bd63-2f9f7502e4ca CAID:CA400034479 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75bd1914-3a91-4c77-b159-7ca8f784d13e CAID:CA400034479 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28475a51-79f9-4c1c-a73b-1d5c6bd70b9e CAID:CA399806084 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 765b8376-3aa7-477b-910f-2456b7f033d3 CAID:CA399806084 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fecc394-f3ff-4b01-a3d8-b8b01440566c CLINVAR:2181112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4468bc5-29da-4e7b-85b7-b363390984ef CLINVAR:2181112 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05c174df-53f1-41eb-95ca-fe3660685af1 CAID:CA915940780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c3bf312-2c16-4212-8a9c-84506ccfeac9 CAID:CA915940780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c34532c-bce7-4c5c-914f-c95c40eca775 CAID:CA399802364 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56be388f-c3da-47e3-ad98-c1ac97a312ae CAID:CA399802364 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccd773a7-a095-42de-ab0e-18e3a1f8c4db CLINVAR:892302 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b509b3f-8ae8-47bd-b5f5-0be67dbbfc33 CLINVAR:892302 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5eeef5c-b8b7-4956-bcab-f19303c6b47e CLINVAR:983532 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ebc4090-300d-4b67-a809-0a65703c2f2b CLINVAR:983532 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd645ec3-df99-42d5-a165-b2fc74bdc95e CLINVAR:573140 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e973c94a-db93-4a2f-b7d1-ea677f56c976 CLINVAR:573140 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3214f0a-1266-4f84-88c5-32b82f2a86e7 CLINVAR:932829 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d6f99a1-5340-4ff8-a3fe-e87531bd81df CLINVAR:932829 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 877d4091-5220-482a-b5f8-5f3edb0b5c62 CLINVAR:189008 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee44bd84-9daa-4950-9fd3-d0412dc3b14e CLINVAR:189008 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e8fac08-06ce-4de4-86bf-10a1b9c525ee CLINVAR:2058739 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45586d1b-5526-442e-b192-8ef4a5aafe1c CLINVAR:2058739 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c6eb9fb-1438-4ac5-97f1-9e2b1a428bd6 CLINVAR:1623 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33f29477-6966-4270-9788-f6d136b4f3d3 CLINVAR:1623 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 804eb267-d502-4e93-a15f-41414cbf95ad CLINVAR:406374 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 48d325ab-54cc-4fc9-b544-92399f3c7e12 CLINVAR:406374 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05980103-01f6-461d-bea1-456c4a72b3d7 CLINVAR:42420 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32474292-4ab1-4dc9-95f8-78e9646178ba CLINVAR:42420 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec4b8668-70b7-444e-856d-8e811ae5f356 CLINVAR:426140 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e4e4b15-3c31-48d9-b19e-69ea613a9e50 CLINVAR:426140 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 749ed3d0-e621-40dd-99be-d5b36bffcdf7 CAID:CA916084365 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b494eace-f83a-45a4-9e8d-a04af3895f1f CAID:CA916084365 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d24f35d-e2f6-4ac5-840b-374db93272f3 CAID:CA392325892 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d8f9525-1097-4fd8-b5a0-e837052eab65 CAID:CA392325892 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633f9eb5-5b01-4d7e-9b37-cb18b2dda7cf CLINVAR:200198 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05c1545f-0db2-4fb7-abeb-12cc7db72a35 CLINVAR:200198 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2224487-22d2-4740-9fd8-6ffd6d161dbb CLINVAR:431935 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9abf3b5e-721c-42c1-a157-77e3be2da70d CLINVAR:431935 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e8f4e0b-1a31-4dd5-8c4e-5132ec859898 CLINVAR:406332 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13a7da7a-fe53-484e-aa52-11a8c62fc142 CLINVAR:406332 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 646cbf24-b849-45ca-8d7b-360f13de043a CLINVAR:373598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a0d6ec3-6f1f-45ec-a9a0-bb8f18c656d6 CLINVAR:373598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 877bb5e3-328e-40e5-b9e8-5b61e4cf9ef1 CLINVAR:189623 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9267490b-5f04-412a-b435-fe27f3776513 CLINVAR:189623 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e021453b-1413-4735-886c-275188744807 CLINVAR:217360 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b062b71-5d6c-4252-a526-6b82e8befff8 CLINVAR:217360 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f83beca-59e4-41cb-a137-5329a881fe8d CLINVAR:286706 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b18a3eac-b8e5-4ebb-8edb-0b05438a705a CLINVAR:286706 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c4ca42f-42fc-412a-b616-260e2bf1d419 CLINVAR:452682 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e196f276-e7a8-4c09-9a9b-f5f3cf34404f CLINVAR:452682 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eff52385-079a-4880-b5c4-cdb0b465e0e2 CLINVAR:547390 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a28223f-25ea-43ef-a12f-3cdfaacf189e CLINVAR:547390 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cd97c49-eee7-4cb2-9542-4a7a00cb4e2d CLINVAR:658951 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db79538d-83ae-4f33-99c3-6c3e8e7e8396 CLINVAR:658951 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5358c97-bdc8-4d6c-9298-e42c6ebed24b CLINVAR:803714 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96ef688d-1f2c-4df2-a7eb-ce680479a17c CLINVAR:803714 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa08c9cc-1b1c-4687-ae35-f700060dc4ca CLINVAR:870171 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e0ad966-528b-4a1d-96db-d9e8de818aed CLINVAR:870171 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b7ce2ce-bc4a-4db5-89f3-a9aeb58c97b8 CLINVAR:985267 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3dc91eb1-a259-4550-a891-1c6d0fa3757d CLINVAR:985267 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e713990-22cd-4c03-85dd-db9bae0493cb CAID:CA2573102976 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c9a5f56-2671-4a8b-bd17-53aceb1f3448 CAID:CA2573102976 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 872b888f-48e7-437e-992e-eef5219a75e9 CAID:CA2497028747 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f6a1b11-f253-4a70-8ed1-15d96fee8308 CAID:CA2497028747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2120c1c-bd06-4254-a4c8-762763f31236 CAID:CA2573102978 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d162f0c-e849-4f56-a172-630ed3931691 CAID:CA2573102978 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7c1c7c7-975f-46c3-a392-f8b11e258fa4 CAID:CA2017997780 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 138bfef0-e19c-419c-8f48-fc943606ccda CAID:CA2017997780 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67ba9cc4-d723-421e-9fad-cf6e9057615d CAID:CA2017997779 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen faafa390-e9f5-4d33-be32-9341a4b40a73 CAID:CA2017997779 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c96c36e-e636-4056-aa2d-b99e5c636b1e CAID:CA2496602227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5ba2e76-9f2a-44ce-b9c4-2c0e75c36f73 CAID:CA2496602227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 728ad7fd-23f0-4264-a1f9-f9d5981310c0 CLINVAR:1708917 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e81530c-6bee-436c-bde7-007aa3fbe686 CLINVAR:1708917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9027ee53-2ee1-468f-b96f-574a761dc3df CLINVAR:36197 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f49f9c4-c3f5-49ce-a293-d80dc8930f72 CLINVAR:36197 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca1fa0dd-b8e5-4171-b775-bc6dbe02be9f CAID:CA367397060 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73d1d6b7-4fad-4cd4-af97-18f0e8ea0581 CAID:CA367397060 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f0fdcfc-9c50-4954-b16b-1f91ffa8ca40 CAID:CA2017997767 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6e58181-0eb4-43db-bd14-bb8688d8a9b0 CAID:CA2017997767 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b743bc5-a067-4fc5-a5c9-bcf96fc935e5 CAID:CA2573106064 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dbe0e638-c903-4eeb-be7f-a5ef5cdd0eaf CAID:CA2573106064 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c02d905-6ad7-4121-ae6e-d72e69c14b4d CLINVAR:36191 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 465b135f-8865-4971-b915-11a68e38fae8 CLINVAR:36191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1588cbbc-2067-4a88-9f25-f96e68160202 CLINVAR:1301411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e63becad-8a1a-45fa-b573-ca5e84459bca CLINVAR:1301411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0edb1d25-38bf-4bba-ad3b-0bed2e4cd2a0 CAID:CA1139771342 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db0e0ef2-0ae5-4016-b9d0-0d7a931e9a98 CAID:CA1139771342 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c29e019b-9fb2-4026-ba93-82672e1cd920 CLINVAR:817706 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6727dd4-76dd-4dcb-8667-5350c9fab15a CLINVAR:817706 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d2747d-998a-40e8-b821-300e0dba9a6b CLINVAR:597013 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2b22794-7f1a-4ebc-a90d-2a65743b454c CLINVAR:597013 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf82163-0a10-4710-9e5a-71893ec0c2cf CLINVAR:654347 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9f4c721-6718-467d-9155-1b4804603b39 CLINVAR:654347 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a80930db-9034-4383-8a4b-4844dbfcee8e CLINVAR:850340 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a383ff6f-9fcf-4e6c-951a-314e49c69e47 CLINVAR:850340 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0481b2a-f4d3-42a7-907d-d8d7ab28b1a2 CLINVAR:418562 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f036715-82f0-4ef8-83ff-009de4622b15 CLINVAR:418562 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd0110b1-ff17-4f4a-a6e6-ac9357a1e1fa CLINVAR:211455 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 809b4c12-b6e6-4daa-8759-522cec040a48 CLINVAR:211455 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a21fbfd8-c8d9-466c-b4cd-c51ee72e997b CLINVAR:804844 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac7dbd86-d78c-4931-8d8f-f37206e6b248 CLINVAR:804844 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3e1203e-8f28-4a10-a3e9-335b7c39542b CAID:CA2017997776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df140122-63e9-4979-8e3e-1668d2505a96 CAID:CA2017997776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 312576b9-e1a8-4151-8f82-2b601f99f1cf CLINVAR:393448 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fd937d7-27ca-4617-a794-546b129e29c8 CLINVAR:393448 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d7f4b2-1b9a-44bb-9be3-747935900c22 CAID:CA2017997775 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d89b818e-92a7-4484-a648-43c2c02ce94c CAID:CA2017997775 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea843adc-bdb0-4333-be5e-7b1a6fc79d3e CAID:CA2017997774 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 512f47ec-42e0-4106-b7bf-c37b5d6afc6f CAID:CA2017997774 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9e2fec0-846e-4905-986e-a5b642fb0384 CLINVAR:421604 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 102b7fc2-663a-49fe-bf2c-35814a3a1a8a CLINVAR:421604 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c872324a-3635-4e72-9975-e825c76cb26c CAID:CA2017997773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ae48e11-5abf-42d3-9728-0f000984a419 CAID:CA2017997773 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7296550b-95bf-4312-8476-b0e7f775610f CLINVAR:1320655 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbba6b27-e89e-4562-b998-c88b0934d2dc CLINVAR:1320655 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 215b10b9-7a47-41fb-aae9-a898941b8401 CLINVAR:435298 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0324203c-d332-4340-8846-e39db55d55e1 CLINVAR:435298 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7e2e3f6-4f3d-4960-94b3-89c858dd9773 CAID:CA2573106102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4612ddd1-a7e6-4e78-860c-5b5c84f95b4d CAID:CA2573106102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b0e4ea7-bad7-495f-a326-61fea8d95e6a CAID:CA367397036 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be6772da-a1db-47f1-8df8-19a38fa3dbb8 CAID:CA367397036 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d422f4-060b-4df5-87e1-70f5615560f0 CAID:CA2573106063 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f668064b-16af-425d-9c57-157af573fd1d CAID:CA2573106063 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c9fda7-68cf-44b5-aed2-26fbb416cfbf CAID:CA367397114 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82ea0564-7987-4a75-bbe9-02cb3177b9f7 CAID:CA367397114 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4feabc28-7980-4438-a0fc-4b8eae774178 CAID:CA367397285 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccb15e6e-6a80-4426-84f2-6a919be1c6e5 CAID:CA367397285 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c7bb3e7-99a9-443c-976b-fd10e7242e44 CAID:CA2018007672 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de3780f0-d77d-427d-a06f-881407a54677 CAID:CA2018007672 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53601876-1da6-4998-9cce-ba12a6e67e73 CAID:CA367397309 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3284c77c-a31b-4b84-ad7f-d278904d904d CAID:CA367397309 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 503c451d-b50c-4c38-a9ad-50e92ac23160 CAID:CA1139771322 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6f8064f-7a65-425a-8b6c-e24080da02e1 CAID:CA1139771322 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 052f675c-8c69-4cf1-b02b-23ad392cf8f8 CAID:CA367397313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 260f77d2-7b3c-4cbb-8a96-9d4932695cc5 CAID:CA367397313 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21d49708-dc45-48f2-97b8-5a120447e3c6 CLINVAR:252467 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7cb6a1a-c1b3-4a7d-a46d-9665c2e6dfd1 CLINVAR:252467 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71c4b84f-cfc5-4933-b885-386c67b1ca47 CAID:CA367397324 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59cad17c-414e-4e41-bde9-742ec12f51e7 CAID:CA367397324 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe267545-4c45-4cf5-b3d9-2857a106a450 CLINVAR:36188 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65efa359-1001-4121-b3ef-bf0f71927def CLINVAR:36188 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66b7130e-8775-48bc-a9db-669dbb32c3a5 CLINVAR:811525 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be148c72-0962-4d1f-9f60-a09e3f3b8520 CLINVAR:811525 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18137f32-1a66-43da-bf36-069c04971dfe CLINVAR:371635 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50af1dc6-a6c9-46a9-8c4e-e309ae444fdc CLINVAR:371635 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01986d93-e8cd-4677-a64f-8952463c7963 CLINVAR:932836 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66d23003-11ff-4a2e-b38e-0053b5d618c9 CLINVAR:932836 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ac0772-f95d-4174-b96b-2e71cff99d95 CLINVAR:811520 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f91a1b0c-4126-4469-b015-8c386b3def8d CLINVAR:811520 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb4aa480-de6e-4674-9e6c-bfcc46749424 CAID:CA1139532272 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 854b6937-eb1a-4158-bdef-b53787bdedf2 CAID:CA1139532272 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65af8ea7-a804-4c3f-8c53-ffb5fa9b7567 CLINVAR:965068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22eef0e8-1962-4a1c-84a8-fbd8518bdd34 CLINVAR:965068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f76e32e-865f-4955-b431-063e3e305227 CLINVAR:291163 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93ae24c1-a88e-43f2-90c3-a2d646f46d59 CLINVAR:291163 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d303412c-2322-4ad9-b39c-bdad7b4b808d CLINVAR:370981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 544ba6b1-6a70-41d6-a993-ff9fea34cf37 CLINVAR:370981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb2b7c17-3d80-476c-a3be-9b3faeaacd47 CLINVAR:932832 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4b76b0a-c3fb-4f5e-bd41-5d162d6f1e5a CLINVAR:932832 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 531e9a6c-a829-4ee7-ae8a-6376e783fceb CLINVAR:932831 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab0ec100-4ab1-4dd7-a4c4-a01aa7b97095 CLINVAR:932831 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4de39609-821e-488b-b5a1-3015723d6b64 CLINVAR:656452 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 014d4533-90c0-47d1-888d-4b3daed0f81b CLINVAR:656452 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e26e08b-8705-463d-9e8e-c5473defd385 CLINVAR:932839 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e07f9bad-7d5f-4963-8d8b-805d03d96263 CLINVAR:932839 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6507c94-ac00-430a-b97b-9be58d2c64a6 CLINVAR:178503 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efeed44d-13c0-4884-b9cf-8e507b35fa21 CLINVAR:178503 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 020a3ebb-7860-4c97-a59f-172831d0e2db CLINVAR:446446 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b017fb5f-63e1-47a2-80d7-e440fded97da CLINVAR:446446 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90cfaf0b-6c94-44f9-9dcd-3d77af164538 CLINVAR:265402 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 201d136e-dcd2-4b18-aa20-7cd48c443f1f CLINVAR:265402 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42eba9ce-ad4c-4bfa-a9d2-0da57f7b0d1b CLINVAR:2570628 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55281f2b-9285-4f59-bffb-c3bb56aeb773 CLINVAR:2570628 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8713a39a-81e0-4e84-81cb-4e6bb17690d0 CLINVAR:1698736 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e741dca-62b3-4c21-a21d-d0dd39300908 CLINVAR:1698736 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e1c2cd4-81ae-4f7d-9a86-836d07b38ea9 CLINVAR:2570630 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0559c6e0-d9b3-4057-8337-11b493bfa829 CLINVAR:2570630 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79f5c5c1-6104-4c4b-a4a6-898f75178805 CLINVAR:2570631 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90fe55d4-addf-4e54-b5ac-f9b9533f7c0a CLINVAR:2570631 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db18d373-0117-4904-8237-1d50c76c2329 CLINVAR:2570632 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 577241f7-29cf-413a-a380-d81e53081e21 CLINVAR:2570632 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 948c328d-abc4-4df9-ab92-0b6fbd02301a CLINVAR:2570633 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33f03d3f-ba2e-4156-bc38-c35b7f1b3542 CLINVAR:2570633 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20ccecca-e69e-4222-ab5a-4ff48ee12df2 CLINVAR:2570620 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe171dac-90bc-4dc0-ac1a-2e6238d81a29 CLINVAR:2570620 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c7bd8ba-16a1-4137-8db1-46bfecb940f3 CLINVAR:2570621 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83fe2f55-e048-4d83-9464-2521168f1e9d CLINVAR:2570621 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23ac0d48-a386-48fa-bf6d-a22b3703f062 CLINVAR:2570622 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7171d832-3e43-4884-a603-e96ca6cdbd78 CLINVAR:2570622 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09999c06-6665-4588-9f2d-d796516bf301 CLINVAR:2570623 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ff876a6-983e-4cb0-baba-334c94afac77 CLINVAR:2570623 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a441a34-5ae2-4688-80f2-4e4cc3af6669 CLINVAR:625855 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4bbdd273-c310-4a6c-909b-6b4171d95903 CLINVAR:625855 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 717a45d1-e9f9-4043-b96b-d7b7a76a9609 CLINVAR:2570624 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1950da33-3713-40d2-8528-81160a484352 CLINVAR:2570624 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0777436-68ea-40a5-9e90-8dbc636070be CLINVAR:2570625 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ee87265-e2fe-4c14-b0f8-cbf18169ee69 CLINVAR:2570625 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb0f94ef-fd32-4b20-8f06-b8247c308804 CLINVAR:2570626 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78ff9f63-8ca5-468f-bd10-64a929de36ff CLINVAR:2570626 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3a7a49e-9e9e-44ee-bea3-45705b9f18ee CLINVAR:2570627 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8a8ec10-e629-449e-8b95-1cc115679d5a CLINVAR:2570627 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e4f32c-6727-4dc2-a40b-b8a3307a3edd CLINVAR:21077 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d486f81e-4b46-4765-8e56-723cb4c1f125 CLINVAR:21077 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24d00692-6806-4184-8112-5d37bbabc619 CLINVAR:2169517 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d159bac-aef5-484d-81fc-eab47ca9c2f1 CLINVAR:2169517 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b25b5b0-e881-404d-b7bc-0455a37f3df5 CLINVAR:1522625 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6ea324d-ebd8-4137-8f75-9d0c1b5362ca CLINVAR:1522625 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e2ad212-28f1-47ae-8966-10f9bb02fe6d CLINVAR:2574162 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71219a29-0a21-46cc-8258-07de4b4e00d1 CLINVAR:2574162 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78c9a4a4-d589-4e6b-a999-b6b1dbd5342e CLINVAR:585909 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7415ef37-4e25-420d-b4bd-60ea8cc7c378 CLINVAR:585909 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9218d835-996a-44c3-ae39-1074d16bdf3a CLINVAR:1256304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 823db158-9e6e-413e-9b0c-2d7376a58b9f CLINVAR:1256304 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da294762-eb9f-488f-9738-e087ce3f2d17 CLINVAR:447384 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fac919d-e6c1-4d49-9373-62bf0b20a5eb CLINVAR:447384 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed5ec45c-32f3-467a-b848-d55634ff4b27 CLINVAR:36178 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a9585e0-2ff1-4150-af2a-5a14e8ea5760 CLINVAR:36178 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1eed4cc-53ad-4893-b872-c49568317d3d CAID:CA367398764 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c74c13d4-d34d-48ec-ac7e-76ac0c80809e CAID:CA367398764 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c41a7428-a5b5-4c43-8692-4a89c6ad67d8 CLINVAR:36177 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9673bf88-5b30-45f5-a0a5-d270cf5e0e8c CLINVAR:36177 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c427040-0230-4060-a21f-dd4457803fce CLINVAR:447382 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac041a20-9039-4813-8a63-ac4a2dc19cbe CLINVAR:447382 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 462b7dd5-bdf7-4a73-bc99-051d13c3b0ad CLINVAR:804832 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fb34924-2137-4ea2-86e7-4df2912cc4fe CLINVAR:804832 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea252ce6-b90c-42df-bb97-ce3dfa2f606d CLINVAR:280955 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cbf5b831-097a-40ed-bf51-811c02b0c992 CLINVAR:280955 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd7c033-da1a-4670-884a-9bff4fc441bf CLINVAR:638014 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d45eff3-899f-4b4d-ba15-b303b6aec5fe CLINVAR:638014 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a3c665b-c84f-44e7-b746-48885ad78039 CLINVAR:960182 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 571cd4b3-5e69-48f3-ada4-e41ce2bb892d CLINVAR:960182 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 438921fc-745f-4b44-b554-022aef16e4ac CLINVAR:2573146 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29b7c2ec-f038-4310-8612-e3932733c358 CLINVAR:2573146 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e776244-918d-4cb5-828a-e57433b49c20 CLINVAR:1513387 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57a43f54-208d-4081-ae88-0189913640c5 CLINVAR:1513387 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57c5335d-4c44-4e00-9c79-a84e9aab6b71 CLINVAR:483420 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b9c25d9-7289-40b7-ac8c-21811ec8b984 CLINVAR:483420 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 273732d5-3d17-4591-95b0-eb7765f05c96 CLINVAR:412149 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a41dbcb-7a56-472a-909a-9a4347afc68c CLINVAR:412149 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c14e804-aa72-4aa1-a0be-db3bb98fc32a CLINVAR:825706 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 505f3646-5407-4a4f-b4b6-d04d5de16f99 CLINVAR:825706 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 242f4e80-ccce-43fb-98cf-df7b984e903d CLINVAR:825692 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b003059-860e-4b7d-9313-41c5fef1d2a3 CLINVAR:825692 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb2d22b-bcd9-43ea-b833-d28b3ccd1447 CLINVAR:485537 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 318724a7-5754-459f-8adb-ff4e72062adc CLINVAR:485537 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88da32d6-9734-4051-a108-0e50ee46acbc CLINVAR:825630 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8eb42ab-9119-4162-9f90-87c43bea5acf CLINVAR:825630 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f56f625-ed24-4349-aebc-84e392548bbb CLINVAR:483441 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51781874-3903-429d-a554-776cf151d6c4 CLINVAR:483441 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f42f4bc-8d19-4dfb-9bc9-095c17488834 CLINVAR:477252 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a4271f8-58aa-4399-b0ca-9a70a2575bfd CLINVAR:477252 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11a07356-b99d-4e62-80d9-392f94f794cb CLINVAR:804344 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba7dd103-3597-4f52-9a57-88340b5a7a26 CLINVAR:804344 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46385331-7fb1-400b-89eb-43a0af9ccf06 CLINVAR:426122 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb6cedc3-d047-49bf-a74b-49ebe911f100 CLINVAR:426122 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e12118a9-4303-4885-ba2f-7eb33e4cb032 CLINVAR:553638 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7c309ef-80db-48ce-9070-745c23688149 CLINVAR:553638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 728bddef-65ff-4482-93da-74c580bca47a CLINVAR:102594 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30b79b02-c9f7-44ee-8301-d8153e57e60b CLINVAR:102594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7022f6c-8a0e-4b73-955e-6ce6e6265751 CLINVAR:102765 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fd14475-2428-485d-9c86-e001a9824d2a CLINVAR:102765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01b3426e-51d8-48e5-96fc-970c5d510517 CLINVAR:102903 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 749884b0-4b8a-4e14-bc82-8e1996c52d29 CLINVAR:102903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ac1f159-3f32-4251-ada5-2b15a2792bc5 CLINVAR:102503 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cd6ab66-28a8-4a09-a81b-805be5790e0c CLINVAR:102503 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5528f8d5-90df-4b2c-8ce2-2bf6ceea8b46 CLINVAR:552806 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 178942f3-c2a0-4aef-9e4f-8e3115a18f2e CLINVAR:552806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb89bfe9-0f6c-416a-97ab-6d92a3e306e1 CLINVAR:725756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cddeb33-6677-48e7-96ad-abb4c2183764 CLINVAR:725756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b94ddf2-42e5-4259-9f4c-dca1f3f7135b CLINVAR:733267 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df9a3d68-7595-42fb-bdb9-c62a882079f4 CLINVAR:733267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 223e4b18-d0ee-4981-bd17-b52554c5154b CLINVAR:755030 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcfcde32-0f44-43e8-a947-f3a3db259236 CLINVAR:755030 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aab5e48-71c7-4f10-b20f-3cc424234b68 CLINVAR:760907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25110e1c-160d-4dd1-a3b5-62b37b105950 CLINVAR:760907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a2e211-33e0-4b6f-a90c-f014e5fff545 CLINVAR:883189 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4009ba92-9a49-4d18-b8e7-908425b544d1 CLINVAR:883189 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93b88bd9-ba65-4dfc-890d-cadf46b50efb CLINVAR:991620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fb2f45b-5da3-401f-bfa0-f8f87b31618d CLINVAR:991620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7947a88-5c20-496d-af03-010c09280837 CLINVAR:991623 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6c11d34-7638-4a77-beba-89bedf6b7b3a CLINVAR:991623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc2b624f-94b5-40e6-8d21-ca03e32801b7 CLINVAR:991624 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96a6dbd9-bf18-42b5-9fe8-b37110832044 CLINVAR:991624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e71bc0da-749b-4093-8610-c8be93856830 CLINVAR:991626 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25313538-711f-4774-80ac-746a55471b61 CLINVAR:991626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4b85fc8-b3a9-4fd4-a568-21745991ae36 CLINVAR:251525 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76aed3cc-fb99-46ca-abce-3e3a3c015c5f CLINVAR:251525 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e4e4236-e2d4-4179-8d6c-b3f8ee6c78ee CLINVAR:441199 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83b6ac85-6c65-4e6a-9145-af3b637b3a59 CLINVAR:441199 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faf09dec-b8bf-4b0b-b665-4571a69db73c CLINVAR:251526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4126dc1e-e165-4d65-92d7-ee633ba4fba7 CLINVAR:251526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 780a42f4-dbb2-42c4-9207-7064ab353ab4 CLINVAR:523725 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b602adfa-f739-4cf6-b201-17968553f8b4 CLINVAR:523725 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffc37b57-bac3-4c84-b2c4-4250f6e50864 CLINVAR:251527 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0379876e-a83f-4e72-a6bf-0c2d0d5c462a CLINVAR:251527 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c72d05d0-77a0-4ff1-aa4a-e6a144be7ba5 CAID:CA367401753 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7da73217-d7ec-46d4-9469-1af3d85b1e71 CAID:CA367401753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e3ba324-c70b-49be-afd3-2b66b84a3c7a CAID:CA367401755 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b29b6be-b0fe-437f-a3c4-9c391140d29f CAID:CA367401755 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36d3ec6c-211a-4dd5-9b71-f13d6a1b3da4 CAID:CA2573102979 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d29a6e87-63f8-42d0-9c1d-452c2a973bfd CAID:CA2573102979 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8a4a3fb-cf98-4227-b04d-0897b937b710 CAID:CA367396876 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12207d33-d6f2-4f5b-9aad-622b2017cf39 CAID:CA367396876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b289348e-f2e2-46d3-8699-4feba36dc28a CAID:CA367397326 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c738ffa2-d0cf-4cf1-bcba-c461e29d4ccf CAID:CA367397326 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 984d3c16-dc4a-49dd-ad4a-76e8117d8bec CLINVAR:447412 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e320acc7-5a3e-4e78-b36a-f50d190477fe CLINVAR:447412 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 699854d2-efbe-482d-ae99-795135c399b9 CLINVAR:16141 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e43969a3-3a07-405d-9a17-de1075b5c3f3 CLINVAR:16141 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e58e8d53-75a3-4431-bab6-a9cb9ebd3f1a CLINVAR:36236 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97447e4b-ea34-4dc9-975e-0e6add45f1df CLINVAR:36236 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 832e5ce1-3ef2-431c-b377-50acee8f0f96 CLINVAR:129143 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7d5ddbe-1c63-4c72-8bb5-200a48071318 CLINVAR:129143 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 507fc6f4-03b6-4391-a303-753f48b1f23f CAID:CA2017997770 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a33e9b9-78f5-430c-b3f4-57303fcdd562 CAID:CA2017997770 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5148ff8b-0a2e-473f-9c12-9c802b1038f0 CLINVAR:804835 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca0f82a3-83ab-4802-be66-509c5ee0d856 CLINVAR:804835 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9013932a-dd8b-4851-b5d2-29bcd37d7236 CLINVAR:1732973 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 471f5e4f-fce3-4efb-bc49-e9813df35715 CLINVAR:1732973 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b9d815-41d8-4ec4-ae49-eb09e59b52e6 CLINVAR:2574164 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed1bcaac-9130-409d-b237-9d7e5dc0dd44 CLINVAR:2574164 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f033b4-5e15-489d-8f63-6d5a696ef186 CAID:CA386965806 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af0931b0-8839-4a10-b033-84dcc52c31da CAID:CA386965806 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b12fa4f-e32c-4f19-af19-f14fba1cd272 CAID:CA386969831 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 994d9bd5-828a-4a9d-b6c4-229d7d6f0c88 CAID:CA386969831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8384de-dfdf-40de-9704-e5c7d3d7e471 CAID:CA386969829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8ed2315-03da-4634-a4d8-bb89008d39e1 CAID:CA386969829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc46bedc-7da4-4e83-9861-daef39edf777 CAID:CA386969822 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85b7e59f-7dfd-46be-a540-b6104507db07 CAID:CA386969822 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b7f16a0-38e9-405d-a5bb-e5688ef6a7ad CAID:CA386970356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f8a783a-96f7-4b82-b0f7-55b0fbc2b31b CAID:CA386970356 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f37aaa76-39a0-4894-aa94-bf890b68a616 CAID:CA409106019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f99e8105-ab60-4035-b004-2c31c80b695b CAID:CA409106019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdff2fd6-9183-42ad-8a39-42818fbd7acc CLINVAR:1744896 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4596c077-d16d-48ff-98a8-c26196f0f477 CLINVAR:1744896 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4842c1af-ae69-4a43-8f1a-ae3063c285ab CAID:CA409107443 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 897a078c-88d9-4040-a1c4-625dddb08ecd CAID:CA409107443 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac15e3c3-0abe-49d9-808c-ad8f465a98f2 CAID:CA2573106200 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 782eb82b-60e1-415f-9a27-5ef114abba2f CAID:CA2573106200 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee02fac7-c5a4-4f6d-b674-9b8c870b4503 CAID:CA409108146 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56e44d58-de95-44f5-9a39-023bba784a53 CAID:CA409108146 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6012d088-d377-48f1-b925-3e0f93134db8 CLINVAR:585923 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 586dd73d-1600-4837-92b2-62665753ac89 CLINVAR:585923 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a8c731b-1ccd-4521-99d1-e41eb6e62a5f CLINVAR:804834 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b30b813-5275-467e-b8fc-df28369d5eb9 CLINVAR:804834 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33fabe75-ad0e-44b9-a4a3-7687e99c51d5 CLINVAR:481178 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 785e430f-c7af-43d8-a6cf-d29ca9368f4c CLINVAR:481178 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2705be2-65ca-4612-bc91-ed189a910ec1 CLINVAR:532446 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 747701d3-7562-4259-a674-83561452b9fd CLINVAR:532446 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 715af44a-1c65-4e1f-8e22-6f5f0fa1cc79 CLINVAR:692767 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de52a2c0-2f0b-4d94-a259-2b75e8c41712 CLINVAR:692767 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fa9a86a-e2d4-4f42-bf17-ad1e70cd392e CLINVAR:228859 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e130a529-0d70-4545-af64-cafc6417a976 CLINVAR:228859 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0b2ce00-0fab-448d-9488-80adecba27f7 CLINVAR:489846 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d1a5de5-c9c7-41bd-926d-50dd52d4fd6d CLINVAR:489846 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd560098-137b-495a-9819-1c7c5dc97874 CLINVAR:230669 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b9f1aaa-47ba-49fe-a0e7-f28a50b60dae CLINVAR:230669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc39a966-454a-4da6-b40b-d79e2e2dd74d CLINVAR:481700 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ac844d2-7471-4fee-8e33-8f1000a6e9c2 CLINVAR:481700 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e473aab-e7a9-4eb5-bbc8-ef3333fb4648 CLINVAR:481692 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89a539e6-dd2b-4e85-8347-978580e86ffc CLINVAR:481692 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eb515c7-bb8a-4ffd-a7b4-201786433d82 CLINVAR:483261 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0393437a-5f73-4c8c-ab5a-be3bf914ba4f CLINVAR:483261 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 261b8d23-9ae9-45f0-9f2c-0e09aa6ac366 CLINVAR:584516 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a399f2e-d4dc-4264-896f-3077ccef9394 CLINVAR:584516 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3005eff7-177c-4e6a-ba85-df2b609d0cfa CLINVAR:220445 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2eec3835-0058-4ec2-9041-9fa52e9f0807 CLINVAR:220445 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe264dc5-a308-4256-bd66-6754f29d4e57 CLINVAR:235370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9e98ce4-6434-4c71-b480-de4437c0e7fb CLINVAR:235370 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9252836-247c-46b0-ac5c-b70d0c09217b CLINVAR:377369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc09b741-d721-418e-8f90-6b9436990623 CLINVAR:377369 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5fa5033-68c0-4367-930c-9daecf6f9ea6 CLINVAR:439912 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8166f4b1-ec0a-4eb9-a977-41c09ce671f4 CLINVAR:439912 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 860d44c4-3d98-41fc-b00d-2fb36b3890ca CLINVAR:428630 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdce70c7-b5ef-45c4-a79c-2c2054d35a6f CLINVAR:428630 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ce394c4-39c3-4311-ae7d-aa2704753146 CLINVAR:185005 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47cc1a58-b44d-424a-b60f-7e491a6d354f CLINVAR:185005 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 787eff31-3f14-42e1-9117-f0fe4c1db319 CLINVAR:921477 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d77e0e6e-d0cd-477f-aa63-4929ab78c684 CLINVAR:921477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14dfd9a2-f752-4afb-8b89-1bfbf157fbf9 CLINVAR:428619 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b37ef16-fca9-4724-a0b2-e56fef2481ea CLINVAR:428619 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6bb2ae7-f32c-45a9-aa4a-a68ff64576a0 CAID:CA2229914895 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e650d3f-59c8-4f7f-8138-c3762222cf96 CAID:CA2229914895 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d177389-c42d-43db-b0a8-f978af3366f1 CLINVAR:21076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db1c1194-fc78-4743-8511-b9360e2ac06f CLINVAR:21076 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f13b1d8-4560-43ff-aeb0-884ce8324eca CLINVAR:16145 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31b8fdaa-3070-4079-a664-66e1f8d7958b CLINVAR:16145 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2857d362-7e1a-4a02-aaa4-db8ceaaf715f CLINVAR:972776 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9a545a5-9860-4d2f-8755-e07b4783c4d7 CLINVAR:972776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0792df8-09f9-4061-a3d6-7e1531333c2f CLINVAR:2575092 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93fce313-b9d0-4b43-8a3c-78aa462bdc28 CLINVAR:2575092 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 647fcacf-0be7-4b52-9ecd-c9a60c0cebe7 CLINVAR:7953 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc5f2036-38dc-4498-9e5b-f8f0db1a49d4 CLINVAR:7953 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55bcdf5d-3e65-441a-b75d-8bd33b888fd3 CLINVAR:2575096 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d0a7ba1-7b16-4e56-8010-ac5a1acbf22b CLINVAR:2575096 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ca8e01a-7502-4c66-b273-065aaa24e11b CLINVAR:2575097 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56393a5f-e8ef-4f4e-a231-1f0c30599ae9 CLINVAR:2575097 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f334df4-12e1-4b93-8585-df69a6315cc6 CLINVAR:2575098 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 564ee975-973c-4a8a-bef9-1e399449932e CLINVAR:2575098 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbb4bbc5-cc83-45b9-80a6-b6fb447b2ff4 CLINVAR:2575099 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1b65478-727f-4075-973e-5e407d1b5dad CLINVAR:2575099 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82d42530-9640-4680-8820-dbdad64da8ac CLINVAR:2575100 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b28163e1-b1f3-4db7-a198-33fdea40ae9c CLINVAR:2575100 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c815eea-6128-46cf-bee1-a75b06e47d3e CLINVAR:2575101 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b82ed8f-a506-4afd-81bd-9dab689b5d78 CLINVAR:2575101 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e56c267-1562-4622-b6bb-9f46f1347fce CLINVAR:2575093 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94154a53-df3b-4e68-b80f-75ca37c1e969 CLINVAR:2575093 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7ef1901-a131-4b31-9a8c-c71acc44d3e7 CLINVAR:293722 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3134b3e2-ae1d-4b93-9454-c0631c652da8 CLINVAR:293722 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c9ca87c-a926-4b88-bc6c-8d490bff45d8 CLINVAR:293720 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d9877d0-12f8-4ef3-a6f1-29c89ef6051b CLINVAR:293720 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a296a3a-f66b-423a-ab53-4b7622151a49 CLINVAR:293719 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 435e1d32-28aa-4492-ae54-b09f65fbb600 CLINVAR:293719 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f33cac46-8cbd-4fc6-b62d-84b7eabf9a04 CLINVAR:875954 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9dfdc31-67b4-41d4-8c56-ed863f8a9bd9 CLINVAR:875954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9915b39-ff9a-4284-a744-261ee6e16318 CLINVAR:293721 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3da26fa3-8884-48b9-ba30-06e453e0c863 CLINVAR:293721 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c300315-66c8-46f8-a88d-e07c78db0b7a CLINVAR:876999 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de894886-3f86-4961-a77b-7687af0c084b CLINVAR:876999 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d7a0ff2-3915-4f52-a7ea-0ee3d2992e81 CLINVAR:293714 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1606e5df-5ab2-4395-b604-da347d141b07 CLINVAR:293714 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c33c572d-709d-49f4-a56a-dcef22c02404 CLINVAR:252960 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c75deaa-5128-4a02-8f26-b8744df2f47d CLINVAR:252960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 764b0356-bc13-454d-a6c0-d25aea00f50e CLINVAR:293713 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea578a37-38bb-4c38-8980-f598743adfa4 CLINVAR:293713 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f72230c-5cff-4f63-85b3-75ee5767d673 CLINVAR:242274 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c62d86a0-5d2d-4a31-96d6-1c10e720e302 CLINVAR:242274 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dad32a5-ba07-4cf9-b3c5-43541f6e77d7 CLINVAR:1324770 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66a09495-3f95-4a59-892a-141b57a64724 CLINVAR:1324770 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2431dbd1-ab3d-4d8d-a97d-2a94cdefdefc CLINVAR:2575094 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e42baae2-e6f9-41ff-a712-0e0c652c6732 CLINVAR:2575094 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd28cb18-f156-4820-af27-fb08becc771a CLINVAR:631579 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52919fdd-5a47-4e8c-904e-8c2171556fe7 CLINVAR:631579 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a2f1bd-9d1f-4a60-b20b-70a7f9539f35 CLINVAR:585908 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f017b75-19d4-4b60-8c89-ea05901a28c6 CLINVAR:585908 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318c4996-e065-472c-96cf-9d45df820910 CLINVAR:36176 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a4a58ab-0c38-4297-b446-3da6fdef78aa CLINVAR:36176 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 987a9df0-6c12-4027-bd65-ecbff395a821 CLINVAR:447425 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e61c538-05e6-4a68-9506-192215f71daf CLINVAR:447425 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b409fe88-26fa-4be6-9f5f-b52657122f98 CLINVAR:1802685 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6169d44d-c30b-4db2-8ef1-9ad4d51a1f42 CLINVAR:1802685 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00f17c83-54d5-470e-8514-243519b73e1f CLINVAR:381598 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9c8da21-075b-4d8f-9ae5-61476e92eebd CLINVAR:381598 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47fe6e0f-8936-4918-8b47-aeb2766a4bc9 CAID:CA367398947 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee9bda1a-fd54-4197-9e1d-dd4808b55eda CAID:CA367398947 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98dc254e-4e48-4428-8362-ab857bf61582 CAID:CA367398935 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4eb1696-4fc5-4565-b376-197c4e0c3bf0 CAID:CA367398935 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 827a4de3-a217-4db1-a590-333f410e7236 CLINVAR:447379 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8fa9fcc-295c-4d91-ba83-a00a0ed106bc CLINVAR:447379 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a7e54a-ae27-4035-9ffa-cb9bbbaaaa34 CLINVAR:129140 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78fce1ff-d1ae-41a5-ae82-f5031060fa5e CLINVAR:129140 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94acbc6a-5b60-47d4-9bd2-f66cc359e961 CLINVAR:617645 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76cccf27-cc9b-4c51-b678-dff7a651fea6 CLINVAR:617645 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92d45379-cec9-4ab4-8903-86ca7b62e61f CAID:CA367398869 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd2c6d90-2e70-4023-bb87-40107f5ba729 CAID:CA367398869 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6f04c50-0d74-4d4c-8b1c-fa66c5fd50b6 CLINVAR:2578349 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 659decbb-ea2e-437b-9508-2bd7b30077b7 CLINVAR:2578349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a417752-c141-42c2-bd23-067af1dd66f4 CAID:CA367396716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ac30799-653c-4c7e-b448-727b3eb36ab8 CAID:CA367396716 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54d220ba-bf81-441b-84aa-f50eaeaf285e CAID:CA367396721 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d49a885-ed7a-49f4-a2d3-ea5944f1d844 CAID:CA367396721 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4041a04-4fc4-44d5-9999-152600aec1b8 CLINVAR:447423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 59172405-bdd7-499d-b419-c0d41a129d76 CLINVAR:447423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d30a26f7-453e-45db-a0f2-08b5a10cab67 CAID:CA367400134 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69bbb93c-236f-4d9b-a01c-e7a677fe0915 CAID:CA367400134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01e54ede-e19d-48a0-858d-b4f4c4732349 CLINVAR:1436793 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25cf0a7b-7487-4b1c-ab4b-ebe7c697a397 CLINVAR:1436793 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0ead1cd-1f49-403f-8270-a2100212763d CLINVAR:16135 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a76b9521-0a88-4896-b406-fe47d1293903 CLINVAR:16135 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffea3009-f708-4f7a-930c-40fe86fe20eb CAID:CA367400569 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 663719ea-34e8-4d53-bc93-6403164f1e1f CAID:CA367400569 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b9bd093-ddb9-4602-bda0-9c73f35f18bf CLINVAR:447418 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fba41360-7350-42b4-8283-6f083a3f593f CLINVAR:447418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692e4525-188b-448c-81d8-35b9893e17c5 CLINVAR:435302 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d0bd898-3670-45f0-972c-8c1943ecda18 CLINVAR:435302 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77f2285-ab99-49e1-a7eb-13ac2a5b1c2f CLINVAR:447417 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cb1261a-8ca1-4161-8260-63366500fa9f CLINVAR:447417 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afbb28d9-25cd-406d-8b30-8548caa4b9da CAID:CA367400582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d2d271e-9d55-4e66-aff1-b89b80e71e6f CAID:CA367400582 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479773c2-d0b9-40ad-b952-d40ad091e228 CLINVAR:36243 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf72c2db-2c5e-4a60-bca7-4182626bc091 CLINVAR:36243 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb422e75-1f15-4c91-b9fe-8a1a3d962e35 CAID:CA367401977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bca28db8-073a-42ca-be30-1d6a3701df8b CAID:CA367401977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9abda10a-13d2-4d68-957c-f8d9a7602dd9 CLINVAR:2428681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba5dcc79-74db-4c37-90a9-d6f0282662a8 CLINVAR:2428681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9d08591-227e-4075-97e4-7face9fc194a CLINVAR:36209 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7af2aed-a5e7-4d3c-9a9d-42c715b83cbf CLINVAR:36209 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4bc4fb8-68d3-4974-9c9f-ca67a1469615 CLINVAR:36204 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a3cb37e-4516-403a-b532-a966b8c6d70a CLINVAR:36204 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5671273-91d3-4a9b-8220-91d01a0e97fa CLINVAR:585911 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 251037ff-aa9a-4f72-bf0a-8d81785532be CLINVAR:585911 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c6a4c30-844a-42ea-bffc-877b9ceae964 CAID:CA2497028745 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9fcec53-b1d6-430c-b01f-61e7926c53ef CAID:CA2497028745 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 136c1be7-6746-4484-929b-5130d7617320 CLINVAR:994902 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cec6f9cf-2041-4039-8afa-afdbf8d51d10 CLINVAR:994902 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38a0aee2-039e-4da5-8e8c-ddb4e633a4b5 CAID:CA2573106198 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40b3d0a9-8dc8-4853-a5a0-192861804fbd CAID:CA2573106198 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e64cce7d-5b74-471f-b87b-d32b4a71aa2c CAID:CA409106116 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62230b11-496c-4500-a724-e347cf3f47ce CAID:CA409106116 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b3cd6f1-458e-427f-a1dd-b3aef5fd766d CAID:CA409106207 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93482ad3-a449-4f65-b4da-2641b1736eaa CAID:CA409106207 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16407586-1bdd-4629-b1f9-9d08a1881ae3 CLINVAR:1756327 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34db4213-160a-46ff-9151-a2cb721d76a1 CLINVAR:1756327 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 954522a4-31c9-4c3d-93da-c15dce9750a6 CLINVAR:972818 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8992ecd4-be81-40d1-920d-b6da378d92a8 CLINVAR:972818 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e32e0631-bd06-4e80-b348-922ab2bdc2fb CLINVAR:1675516 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af4f2d01-d206-4c6b-bdf9-df391fd7d7b2 CLINVAR:1675516 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f387bf1-6ec5-4318-b10f-ed5e03628de7 CLINVAR:751827 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 975f7fe5-70c4-4295-9642-859a0ee9be03 CLINVAR:751827 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82fc5d9e-cb78-4c4e-932d-d3284b3d382e CAID:CA915940958 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b0d4c08-f2be-4650-b776-fe5035112f6b CAID:CA915940958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e0f2be-07c1-4b75-bd75-a5a7e541079e CLINVAR:323548 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c044e6ac-0c9f-4981-ae25-5a69fe0fb96a CLINVAR:323548 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ede881c4-1b22-4e26-84c4-e3c4eb0295fb CAID:CA399801096 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca3e7114-5e4a-452f-8ae3-cee0291a338e CAID:CA399801096 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91cec80d-9353-42a0-9ea6-62cf24226565 CLINVAR:888905 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cfd33c1-3aed-48fb-a249-a422ba585ffa CLINVAR:888905 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 871f210a-cd8e-4577-b9ab-c312451d1482 CLINVAR:323571 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e7b34f5-8297-4ac1-99e2-a7aecfa9511d CLINVAR:323571 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07b29612-9865-4b66-9825-cb8cda34a23b CLINVAR:2578344 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20f32409-314a-4c18-b687-b572492ae09a CLINVAR:2578344 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be36bacc-53d3-4452-bc8e-e3342750decb CAID:CA409103809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85169f71-d743-490e-b718-deffa62635f5 CAID:CA409103809 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55e93260-919c-450e-b526-538fd764015f CLINVAR:422466 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d3b6ff3-276f-41ca-89cf-8173755cadee CLINVAR:422466 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f76586bb-f18c-436f-93be-ecaf0e6c19d4 CAID:CA367403541 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8e81247-cb6e-4bae-b81e-00175767212a CAID:CA367403541 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 516f0868-b3f4-4850-a4cf-6498d4068a7c CLINVAR:393453 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14658369-30a2-4df0-ba90-411c17b5d4ef CLINVAR:393453 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23c8258b-ed9f-4cf3-ab28-0d5df3b2c323 CLINVAR:419624 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 604a2dbb-ffd2-44d7-b9e2-b648e4c249a3 CLINVAR:419624 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4315bed-ac46-4df2-b468-add9d54f77ae CAID:CA2573105963 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da2d5feb-791d-4953-ba01-9256c0f506be CAID:CA2573105963 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fd17630-200f-4ba8-87a5-90fc6c29e91f CLINVAR:447388 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84b081c8-d26b-4289-98d1-73b24c0b7e55 CLINVAR:447388 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e67bdc1-97db-4e49-a2c7-89b704962f04 CLINVAR:2578359 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7b3b129-6131-4a45-baa8-48292c8d8585 CLINVAR:2578359 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ebd4607-8fa3-4047-a252-25dd81e2f4bb CLINVAR:1301416 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26317123-5c10-448c-a4e0-f11bb8d31042 CLINVAR:1301416 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 912590f2-0f37-4e1f-b7d1-7b019797d40e CAID:CA2573051052 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3916835d-dba8-4001-a61e-c83c14f90571 CAID:CA2573051052 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45cf9de6-b0c2-4d6f-83ce-a41783a847cc CLINVAR:36201 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b829e5ba-1447-4fd1-a86c-7fd389a479a5 CLINVAR:36201 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8ae6663-a96c-4328-8bf3-e5cb5a9e57f6 CAID:CA2573102980 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58a67099-7b02-4f0b-99fe-f0482da5a53d CAID:CA2573102980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a852ef80-6cf7-471d-9f6f-213b93d314ae CLINVAR:1365679 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79e9c6ea-f2a0-48bd-8aa1-c11fed54beae CLINVAR:1365679 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcfcb219-3077-4912-9e64-f244517e2e01 CAID:CA2017997777 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 142d4a1c-5755-468b-999a-491b321e5ea1 CAID:CA2017997777 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7cab688-094c-49a2-9cfc-dc0f645b1176 CLINVAR:585915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7079f3c5-ed2e-46ba-b89f-180229906d4c CLINVAR:585915 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bdf2f3a-c99d-4144-abb5-685e44f2081a CLINVAR:1799350 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 850a1bff-c776-4d3a-834e-b7415e7a0c59 CLINVAR:1799350 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d34fda3e-fa2f-4bdc-b2c6-db4d033a21c9 CLINVAR:289356 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5140430f-1453-4f32-8410-dbcef3bba1a2 CLINVAR:289356 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b95d843-8391-459b-803d-7f90671e091e CLINVAR:286228 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 413560b5-a006-4dcc-87bb-5f9e6d6530f2 CLINVAR:286228 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a41845ac-d85c-4db7-a0db-6393c9a96bf6 CAID:CA400025655 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e5a7b41-48d5-4b27-b517-2c497c7dc67a CAID:CA400025655 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b077aa6-d25c-4851-9ddf-c5f0edc11921 CLINVAR:2581084 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 324885dc-097c-4283-bd65-59496bb800aa CLINVAR:2581084 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fde1316-091b-462c-a5fb-d8e581e9b96d CAID:CA367397019 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b006356d-d06c-44d6-83d3-72cc1a8d4708 CAID:CA367397019 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcfe15a8-6e23-4296-a723-c2aa0e1b5a24 CAID:CA2573106066 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30392caa-d4d4-4ab0-8d5c-4d338cd0e40d CAID:CA2573106066 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c610d4d9-7473-4baa-8276-7fb77ca7173c CLINVAR:1769182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dee52a79-5883-4466-a9cb-3a5127d06a14 CLINVAR:1769182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 354cac1d-7b2d-4c59-8bdd-1fa6c60c9440 CAID:CA367398252 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72a9400d-49e9-4d67-a98c-0726331fff06 CAID:CA367398252 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aed30fc9-79b8-4d8b-928e-2862dfb14978 CLINVAR:995102 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62dc7ae6-5c65-4767-b569-530e561f6d63 CLINVAR:995102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c6bd166-9fde-4505-93a6-824b73bdf385 CAID:CA4239418 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 597238d3-a618-4423-ad25-cdd3b88823d2 CAID:CA4239418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deda702b-81ea-4055-b256-ccb89085b288 CLINVAR:447383 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f748ed5a-4b57-4147-b39f-56ac34945592 CLINVAR:447383 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c69d4f3-b1d4-43db-a6ed-4970813a2db4 CLINVAR:617652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af81975b-151d-4811-8c54-91ac04b8daab CLINVAR:617652 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9f5a749-9a1c-4db8-a5d6-4f1478aa6505 CAID:CA315411422 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5fcda470-208f-4b28-b0bc-27cb218d6e38 CAID:CA315411422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a63daf3-78c9-4b7d-a959-da2adb75f908 CLINVAR:1098819 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3c0315c-2f75-47f9-acf0-f11cb57dd4b1 CLINVAR:1098819 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80cb81f5-7ef3-4867-ac49-207f1e04f7ff CLINVAR:1299752 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ac4ae3e-727c-4707-8673-f179157d385b CLINVAR:1299752 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36fb728d-2610-4c3b-b57d-c7b770d78185 CAID:CA386966083 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac4a5849-8b14-4a58-b1da-be64e848dc3c CAID:CA386966083 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cece25f9-a720-4da9-bb9d-16875cafdc80 CAID:CA386966081 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 792f14a9-d283-4dea-877d-f2bb8d38c1d8 CAID:CA386966081 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72ed7dac-c624-4a8a-b539-11d5e4950063 CLINVAR:2581122 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d52a7a5-96aa-4e72-8119-1c1a96d97091 CLINVAR:2581122 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67003e9f-ef1f-414e-ac6a-399777c3b871 CAID:CA386959080 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1fd7d18-56ca-45e4-aeb0-a401abfd9ff7 CAID:CA386959080 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cac5fae3-5c42-4901-a714-f61a4133cde8 CAID:CA2580610925 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02597865-a779-4eef-a988-db4755ca5ffc CAID:CA2580610925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84bacaa1-3932-4e7d-8cd5-982219554e9e CLINVAR:36185 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89fa6e0c-d330-4639-b1cb-67a88138f56a CLINVAR:36185 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89287b9d-c4fc-42eb-8dc9-ddd4f57352b4 CAID:CA367398753 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e38bc052-5ae3-4446-89c3-38f2afc59abb CAID:CA367398753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e215b3dc-34a2-4b34-9dd5-0be380e70739 CLINVAR:1727652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5dfccfa7-850c-45cd-af25-14d66c73a833 CLINVAR:1727652 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bc3298d-ff3c-44d1-bed5-1c50b4f81e9c CLINVAR:435310 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffafdc7a-eda5-44bb-9a5a-f00eb3d340f5 CLINVAR:435310 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d6a2590-f254-4e25-81be-13ff192b1e66 CLINVAR:2581126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efde8cdf-9db2-4339-a3e4-30b534fa0797 CLINVAR:2581126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1ab6a99-f8f3-4971-a530-5cc477759d15 CLINVAR:585927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3daccf0c-fa62-4203-aa43-de3a38ce1ebc CLINVAR:585927 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b093ff25-4eea-445b-ad6d-708077290373 CLINVAR:323566 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b485dfd-5949-4945-ad27-7900f1013ba2 CLINVAR:323566 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3202373-5cfc-4366-952b-78816832b89b CLINVAR:890600 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e11568f6-05ec-4b8a-b166-972bc196c8c7 CLINVAR:890600 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2242cfb3-7324-4245-a2ff-36582e5385fc CAID:CA915940646 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3bd15ee-d11a-43e3-9ae2-5647733f9907 CAID:CA915940646 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68a1ada6-52c5-436e-9595-0c7842d4c5ec CLINVAR:890135 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fc51938f-9713-4ae3-b105-51ada39ea94a CLINVAR:890135 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b2265a6-588e-46c3-9d15-b04f0d19211e CAID:CA399804774 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf258d14-37c4-4483-8c06-dd446a5542b2 CAID:CA399804774 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fcd4281-24fa-4448-930e-1873bcbc9146 CLINVAR:872751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a866429d-9e51-4adf-9e07-070f89197da7 CLINVAR:872751 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa04a2c-2f25-4be3-bf1d-a7af563571ba CLINVAR:142905 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d7f8840-6864-4cd4-83ba-16cdc27550b3 CLINVAR:142905 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96574e21-0cce-4a95-9914-b556e2440de5 CLINVAR:239915 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb0e2227-256e-4863-addd-719d507b3de1 CLINVAR:239915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fd6fdc7-d0ad-4d78-80d4-5ead782b8345 CAID:CA409104369 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c4604c9-6851-47c0-aa09-9483468f81d6 CAID:CA409104369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92de9ae1-839f-4dd0-8712-12bb30cb2ebf CLINVAR:427034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a695949-2118-492b-b091-b3c20a4edc5f CLINVAR:427034 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 008e6c86-989d-4dad-beb6-7987e8f70576 CLINVAR:18019 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cb6d764-5d0b-4660-957f-afc1dbba1fb1 CLINVAR:18019 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed87c187-3c39-4dad-bda4-03a843a96247 CLINVAR:627228 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d72bf13-6f93-4452-8763-1de36b48c94b CLINVAR:627228 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32002bf2-6655-4190-8459-03c7e392acbd CAID:CA1139771046 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14f3851d-50ff-4d31-8145-08dd3826bb8e CAID:CA1139771046 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 921b72e6-2292-4fae-80a5-1ba6d0d2018c CLINVAR:18042 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e0a8c5f-bd63-4300-9622-4a0128e61965 CLINVAR:18042 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5afc7043-63dd-4904-9c53-2b35af8535de CLINVAR:18014 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09330b8c-5574-4c34-96a5-4a00e32ded45 CLINVAR:18014 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31d1ebf0-a92d-4d00-bfc2-727dc5aa690f CLINVAR:18034 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bf85093-7f00-4dd5-b378-54b9ead447ba CLINVAR:18034 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe924d0d-05d7-4279-9750-58027eacc31d CLINVAR:627161 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a3a0061-2660-4b48-a5aa-f156406b975f CLINVAR:627161 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 840ed662-406a-465b-8970-4a415473cda3 CAID:CA343774795 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc7fa195-7016-4d6c-a4c1-050ca6ae583f CAID:CA343774795 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37af7e21-2310-48a8-8b13-ef7c02ef61d2 CLINVAR:410384 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27534a54-c627-4fcf-8df1-f3654845fe9b CLINVAR:410384 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7050847c-bbca-4eec-81b8-b13e3df949d7 CAID:CA1670972946 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77c9016f-2737-436a-9216-4055e3403ccb CAID:CA1670972946 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fbc19d2-ef3a-4497-b604-ccdb34d3f63c CLINVAR:18011 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb0d934b-a409-4210-bda5-67cd87215d33 CLINVAR:18011 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8885d605-f159-4bbe-ae5a-5779a23cdd5b CLINVAR:447399 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1735813a-b21a-4428-a8a1-09b1cb8f11ae CLINVAR:447399 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d321c12-d3c9-4870-9496-bec3d6cf8cad CAID:CA367401964 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62f143b2-d717-4b3d-bc67-e3b86a5a99ad CAID:CA367401964 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36cd7d6a-97e9-4b69-a61b-c8769a9cac4b CAID:CA367401896 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23e25176-b36f-4d60-9ef2-4fdc9f32d6d1 CAID:CA367401896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56be9d45-cbff-4f81-a6cd-c2072e4d7169 CAID:CA367398808 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fc6deaa-8438-4fd7-8001-52b6844b37e5 CAID:CA367398808 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e92e22f9-800b-4def-a729-28a84319dca8 CLINVAR:447420 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58971037-f16c-4c68-9fc8-6c5c5eab8744 CLINVAR:447420 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f90cd6e4-068d-471c-9e5e-be1d62896cc7 CLINVAR:43519 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa19e62c-9d7a-4bed-b643-7f4b772eff1a CLINVAR:43519 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 876fc62f-931b-4880-ae62-90c16fbaf17c CLINVAR:37404 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e057952-5e35-4847-adc7-470b26e6063e CLINVAR:37404 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91571fda-3f67-4a89-98a9-d20045d800bf CLINVAR:17662 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6c55951-cfa8-4538-847d-914fa28966c3 CLINVAR:17662 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b59d7cf-a37c-4931-ae0d-4df0b4f806b5 CLINVAR:52430 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0a4aac0-615c-4b85-ac29-347f0cd85479 CLINVAR:52430 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d0b5afb-676e-4e25-a50c-4c919e997bc8 CLINVAR:37635 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1931b72c-c8a4-430f-a2bf-f0326c093e27 CLINVAR:37635 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cba3e19-c753-4039-8908-9386100427db CLINVAR:55451 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fffed414-6ab1-4079-8cd6-2c96b17a5957 CLINVAR:55451 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a89153a-3874-43c4-a50c-67702737ac4a CLINVAR:38132 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4def0334-257d-4e7a-bab7-da04d685b209 CLINVAR:38132 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef13c991-e79e-41e6-af43-cb3b605b39e7 CLINVAR:246362 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db066cb2-714f-44c0-be6a-b66f889cd921 CLINVAR:246362 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7df5d466-810b-4f4d-b9b2-8e13496bea49 CLINVAR:52475 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 642b4215-8bcb-4174-b7eb-d80a9fc2878e CLINVAR:52475 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed60560c-1065-43e3-a5f0-5623a437430b CLINVAR:54400 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6cc4075-7228-45c4-afc4-bd4ed4135812 CLINVAR:54400 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaee662a-7c6d-4652-bb56-31e6423a8482 CLINVAR:54467 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf8fb51f-741f-4ee7-9765-2bdc8f99660c CLINVAR:54467 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3054a70-5429-45b4-abb8-f579fafb5e6c CLINVAR:267530 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87b325be-d02e-4cc8-b69b-c2252e29ea05 CLINVAR:267530 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0e895e6-9e81-4654-935f-daa4fde14534 CLINVAR:55374 biolink:genetically_associated_with MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f092b3bf-d1ed-4a2c-9d96-1a866e6dd32d CLINVAR:55374 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f2c73d9-6c70-4087-a4ad-9eb4b45ae541 CLINVAR:431973 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18a9f51d-10d3-42a6-80eb-a83d1e4b6246 CLINVAR:431973 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 603adcf7-714e-4a05-a292-1091f35fb662 CLINVAR:55392 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fea3d9d-bb62-4c80-a4ea-f2209e50fe9d CLINVAR:55392 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e815287-af62-40b7-88c4-5c65d86c0bf2 CLINVAR:267601 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d3c02f1-9a9e-4b5a-b123-63eeacb03c31 CLINVAR:267601 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a23ede26-5335-44f2-a19b-1a270b9db221 CLINVAR:55607 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15e49341-eb15-4ec5-ac7f-20623e5b77a1 CLINVAR:55607 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 678b892e-f599-4e76-915e-3619f16aaded CLINVAR:9325 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ad1fec7-ae9b-4120-9e64-b018c3600d5b CLINVAR:9325 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3198b732-6d21-4cae-8489-e06c2708f12b CLINVAR:219896 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d293b1ae-b190-4d7a-91c7-a82c6aeef980 CLINVAR:219896 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c50151-41ad-4b9b-9233-a7ba97be6ff2 CLINVAR:52516 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen daabf888-116c-4512-a3fc-c16b01c04d8b CLINVAR:52516 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45f7de3d-ace7-4d4b-a40f-48805b1d2b7a CLINVAR:38215 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81c5cb2a-9df0-4f22-8901-258ed2f34b5e CLINVAR:38215 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98ddc9e5-3703-45d5-9421-9358468d64f5 CLINVAR:126203 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcbd65aa-1c39-47d3-a52a-600a45a99869 CLINVAR:126203 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62d840b2-7816-4ff3-afd7-764e2147b6fe CLINVAR:38260 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09b185a3-649c-451d-aa42-bed41d1c45e7 CLINVAR:38260 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa66b5ce-5a47-4acb-817e-cf139380b635 CLINVAR:52919 biolink:genetically_associated_with MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76cfa096-d9c7-4e4c-ad45-e39579d7d620 CLINVAR:52919 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6df3c51-b7d7-482c-a31b-d7e6a7d823e1 CLINVAR:284886 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd2344c7-552a-4e5c-abec-faee028eb884 CLINVAR:284886 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc09e642-57a2-456d-8467-3750ebacf931 CLINVAR:546808 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9fb1ced3-ad22-4fbe-8df0-25f6eacd78d8 CLINVAR:546808 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 192e907c-7bd8-43f0-a636-2b7ac859ea07 CLINVAR:2664365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ac6599c-edfb-45b1-b5aa-645630fed1ba CLINVAR:2664365 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05de3f8c-a598-4547-a1f6-0406e45c8d5a CAID:CA16020951 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75ce4366-dc8b-4e47-84b8-23e2fd913aa7 CAID:CA16020951 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c5cd18a-6675-4a7f-9eee-0a32647d0462 CLINVAR:102717 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c58d3706-f765-4958-95bb-0af4e9f30b43 CLINVAR:102717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 244d5f8a-a3f4-4255-8389-a17c4665b1b9 CAID:CA16020824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c91db563-ab2b-4961-a69f-5edc0ad95df3 CAID:CA16020824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b430b1c-7898-41b7-b301-735421bf5f7f CLINVAR:556660 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70bdbe88-7055-4118-b9ad-2dadada3e619 CLINVAR:556660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81a6dacd-efc6-4425-a439-5911ce6416d8 CAID:CA16020767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1f4ee3b-87b0-4159-ac12-5b89434b43e4 CAID:CA16020767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba98d6c7-d9fc-479a-8149-2795772db112 CLINVAR:21078 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40f337ef-9d27-40a8-92b8-e8fe17dd282c CLINVAR:21078 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 087c993c-c658-4566-b4fd-ec93f2d6dfca CAID:CA16020835 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65ee5e7a-ac08-45e8-a7a2-3b4fdfabde06 CAID:CA16020835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55af9312-3993-4701-a000-d10c35ac6c61 CAID:CA16020974 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca1ad52f-297d-49c1-8cc4-f96a731605ba CAID:CA16020974 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e97ac16-d13b-4996-8a31-f1176166bebd CAID:CA16020726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 806bcc08-5194-43c9-9e2b-2bf810261844 CAID:CA16020726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b2f2ca2-7c11-440a-9dde-8f4a8f105d4f CAID:CA367400776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f310b37c-35c2-49ab-9949-db79e90ff333 CAID:CA367400776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36937ece-fcdf-45e5-af75-435a0c2cd694 CLINVAR:36244 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e6874af-af92-4e6a-a1c7-02176480d47f CLINVAR:36244 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94ea07d7-a6b4-44a4-a791-9d71afe9f2d6 CLINVAR:1172896 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0fbe2a5b-0cf4-405e-b0e8-d97e2ce51394 CLINVAR:1172896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 526bc9a0-62f4-4b1c-8e4d-ee84f9344281 CLINVAR:102532 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcd08790-aa4f-4917-a130-4fdab00ec3f9 CLINVAR:102532 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52cd8393-28f3-4857-ab41-fb3451a3eae6 CAID:CA16020918 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27801272-d819-414b-af93-19717857af7b CAID:CA16020918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 005b0091-04f2-4c2a-b2a7-3af4ef6a0adf CLINVAR:102635 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 499aac0a-72b2-4e55-be53-952684f3d19e CLINVAR:102635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bebe0bf-b71c-407b-b038-9363c262bd55 CLINVAR:495789 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5201bb43-3073-41ab-b6c5-4417f60e4821 CLINVAR:495789 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a435fc0a-e70f-4a3a-922c-319597438d16 CAID:CA16020717 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3910af42-d0f0-4ee3-af22-b689980f0a91 CAID:CA16020717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05e0aad5-f386-4ecc-b776-973a993024ca CLINVAR:102848 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 786a37d5-3a42-42df-a9e5-701c91354e4f CLINVAR:102848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f21b2676-115f-4771-8d72-7b57657f04e0 CLINVAR:558132 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afb8202f-d639-4a2c-bd8c-44b11acb6dd8 CLINVAR:558132 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b2474a-a16f-4831-9e80-cf30ed703700 CLINVAR:102867 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9516d123-a927-4790-8768-79678a600114 CLINVAR:102867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79473e3c-1af6-4d6c-a9cd-a8746f990e24 CLINVAR:102500 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91c1085e-976a-49a3-818b-1d350234be70 CLINVAR:102500 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fe47bf1-95b7-4b32-9688-4ac8685879dc CAID:CA16020799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0496a301-d674-4fc7-a8c4-62ccbbac892a CAID:CA16020799 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39dc5dc8-4dff-4652-8993-3a09b8792ba3 CLINVAR:536543 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ce70b02-a029-4f1a-962b-8239f13ad67f CLINVAR:536543 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89a50962-66d4-4321-97b7-a5fa5c06fc36 CLINVAR:536558 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2852691a-560e-42f3-9e6a-5a7fe0e9da52 CLINVAR:536558 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b3db54a-8078-49ab-8ef4-2652542fd007 CAID:CA8603504 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5b87a49-746c-4a6c-a02e-e906956716f7 CAID:CA8603504 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3b994b8-536d-4ee5-91c7-603b6fc47423 CLINVAR:1687232 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91e9952b-712b-4872-9e8c-d25a86a398fe CLINVAR:1687232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e41aa021-2860-403e-a51a-e2d540fbaec0 CLINVAR:2674649 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2122b246-4e11-4699-a329-0895e39128b6 CLINVAR:2674649 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88073ac2-8df7-4f0f-9e1c-04746c3b8df7 CLINVAR:888826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e18d0eb-5bd0-4501-8459-e7a5ea34050e CLINVAR:888826 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9445387e-b32d-4e9a-b676-a79b179876cb CAID:CA913184731 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b378573-ea6e-413b-b7cf-e4acbb33feac CAID:CA913184731 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82d613ea-793b-4032-973a-0824bbff54e5 CLINVAR:888825 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 941d9f26-14a4-43a5-9245-c6fd7a18bb09 CLINVAR:888825 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff5276e5-45c5-40ae-9b4b-d786586a16d1 CLINVAR:888824 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a6f4930-c116-492b-a636-203ebbbe0372 CLINVAR:888824 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afc4452e-81d5-4161-b5dd-60c9d5e3ac83 CLINVAR:428195 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1196181-79fe-4ebd-bbda-d5ad08197ee0 CLINVAR:428195 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a612184-3dd0-4214-ab3c-341899bce1a9 CLINVAR:1334551 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0405f85c-0fb3-4851-95d6-a180e0e4ecae CLINVAR:1334551 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d761ba5e-63d7-47ca-9747-3495ea94c505 CLINVAR:189400 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10f3dcbb-f0ee-4e34-a052-af7e07421796 CLINVAR:189400 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 566c0985-4450-4398-bc7c-61dbcbd00a82 CLINVAR:486972 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9c8672b-0485-4cfa-a66b-52b0cb29157d CLINVAR:486972 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2caff7a-e870-4f48-88d5-d4e2265e878d CLINVAR:818421 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f167fa3-edd4-4d36-abcb-1361d12c6148 CLINVAR:818421 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e0507c4-ec0c-4584-bc72-ac2aedce3a0e CLINVAR:184277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fafbc548-b34a-4943-8f0b-5b6ceabe015c CLINVAR:184277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 211b4d46-3dc8-4e2f-aa50-960e2657f0aa CLINVAR:1704153 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 474bccff-aa91-4f8d-901b-f280fdbcbe33 CLINVAR:1704153 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e38a2eae-a73c-4b07-ad9d-796dac1acc6f CLINVAR:1320976 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed3298fa-7c3d-433c-81a6-27abf4dbf4fc CLINVAR:1320976 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92579824-b791-484b-ba20-b18e8ad532b8 CLINVAR:427589 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68ef2952-69d6-49d5-bc4e-1545c8c3d6c8 CLINVAR:427589 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1460b57f-1493-4951-9039-b21cf67ccdf6 CLINVAR:428243 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 505c9def-d9ad-4209-98f6-860ba6816982 CLINVAR:428243 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac8fbb3e-8903-43db-9503-d76f5e148740 CLINVAR:280724 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a6c3a76-b188-4bd2-951e-f28eb30077bd CLINVAR:280724 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 641ae605-f7ac-413c-bd70-e9258a1d73f8 CLINVAR:943637 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cbd68a7d-f175-45b4-8d5a-d0dc6431683d CLINVAR:943637 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 684f17e0-f45b-45b3-af23-17799bad62ec CLINVAR:428266 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ca8135e-948e-45f2-9d12-fa7e116fb1fe CLINVAR:428266 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e966c770-da80-4e78-ae76-6109c68efd92 CLINVAR:233456 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a300832-10a8-4727-8bbf-11d2a8168377 CLINVAR:233456 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e90d5ea8-fa6b-43e3-a7ef-3db25a233211 CLINVAR:393451 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37a32c4e-8c0d-4d9c-a86a-49109340d041 CLINVAR:393451 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b11b724-f164-462e-8460-150e5b22e413 CLINVAR:435311 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1a0dc0b6-5e35-43dd-a3ee-c92f18aa003e CLINVAR:435311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 909cf392-3ea0-4ebc-a9f2-1e3efc8353ed CAID:CA16020760 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f5427cc-7e9a-44f1-9d28-412b4a0e237f CAID:CA16020760 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d06a9f7e-58b7-422b-aa8e-3a4821923e12 CLINVAR:211073 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28b92424-0db5-4612-85be-4d32a7fb35b1 CLINVAR:211073 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 907bf9cd-0a88-404d-a013-0c109b69d753 CLINVAR:555864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37b44688-2501-423d-bfda-e25dfe38c99b CLINVAR:555864 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce31fde3-eb30-4839-856a-6d2646ede590 CLINVAR:4024 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed03a0f5-0d9c-4f24-b216-584ea6b92cb9 CLINVAR:4024 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 795952c9-9063-430d-a540-315e70ea8b3f CLINVAR:290225 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83c4af14-0035-4485-8fca-76ee8940d228 CLINVAR:290225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9c3abdc-47c2-4af9-9275-02869161188b CLINVAR:189007 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6652222b-f4a7-4502-9d35-861a22405bc6 CLINVAR:189007 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a08da4a-4a15-4c53-a6dd-b9e91c0f244e CLINVAR:285366 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d921d6a5-2202-498e-bf00-fdf5064b1019 CLINVAR:285366 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b2233d-ec83-4a84-8297-fb58d87ea493 CAID:CA915940648 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7dc45e5-5ee5-47d8-b476-dcfd37233312 CAID:CA915940648 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6f0347c-fffc-42f2-b74e-d54aae641484 CLINVAR:323546 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3a4c7da-b474-4aa5-b386-b59c3f8da92a CLINVAR:323546 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d585d841-c195-4de2-9f0e-7d7877781544 CLINVAR:995104 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 587242e8-2beb-45d8-9f69-bb92da4a2248 CLINVAR:995104 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3586f1d-a9f4-4a9b-8b3a-e4f816f44ca0 CLINVAR:995103 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bbffff0b-5d6f-4e28-8f53-378a8f36456a CLINVAR:995103 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc1f0039-3efa-4e86-8108-5e88ce4c86d6 CAID:CA2573106065 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1b25fa5-1979-4629-94c5-7a1f74452dad CAID:CA2573106065 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c50cf808-8512-4c6b-b185-8d4b5639b2a9 CAID:CA1139771343 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c95f833c-704c-497c-940f-182d7827d670 CAID:CA1139771343 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 557d134e-9b54-436e-b430-d5ce6c6b7184 CAID:CA367397333 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a793e85b-dc07-40fc-a707-1d76f59730a2 CAID:CA367397333 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd6d029-6db5-4f33-9792-63aa2e55daf0 CLINVAR:447380 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a0aaac3-489a-4b4f-a948-79c75aa9ae03 CLINVAR:447380 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94173a5c-f931-431a-9223-cbf7498189a7 CLINVAR:370043 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 970c2145-cd88-4fde-b484-d3636142c432 CLINVAR:370043 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e348e322-99d9-49bf-8761-2a0233ca296b CLINVAR:9717 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c0ac72f-f5c9-4049-98aa-f49844a375ff CLINVAR:9717 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e92a1a4b-727e-4ca9-bfd0-facc2aac0c3b CLINVAR:1026606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d5ba0b1-cd51-431e-b64a-0cbf58a385d7 CLINVAR:1026606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da76138a-5bc5-447c-93ea-196cccb7b1ea CLINVAR:339811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5987c30d-217a-4ac5-a77d-560b0b855871 CLINVAR:339811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb741623-a709-44eb-9c88-c95b2c3270fb CLINVAR:658195 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06012fdb-8916-455e-ad49-61c77c1f2a26 CLINVAR:658195 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58b23499-1394-40ec-9f22-5f927249e3cb CLINVAR:409809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4c8e984-10ef-442c-8e10-e1ba0c49e9cc CLINVAR:409809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca599821-2b68-42bc-8e9f-4e9406abc8e5 CLINVAR:1118048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 574324d2-040b-4a80-9c11-89beace6fd2f CLINVAR:1118048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74823a83-6830-45d1-b7d7-79ec0548b12c CLINVAR:961001 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46918e60-d3ce-4469-adaf-cb55e6269517 CLINVAR:961001 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ca8de61-307c-4f9e-a4ec-6b14c65b3660 CLINVAR:415829 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f101a429-0791-41a9-8ac2-3a14b382f870 CLINVAR:415829 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61093b34-a69b-4e6f-8dec-f6823b1304f7 CLINVAR:464013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92291859-2b43-45e9-856f-27064d6c3d3c CLINVAR:464013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5e62efd-2763-44a2-b09a-e7c9ee6f272b CLINVAR:532665 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48310a7c-fe41-497a-955f-ee3d0b7ec272 CLINVAR:532665 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc1e56ac-5b9f-4474-882c-c244f46e438c CLINVAR:843240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3c4d7c0-f4f3-40c7-ae9b-3f04e8f2dca4 CLINVAR:843240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c830466d-e7a0-418a-b8ca-d2f6749cd095 CLINVAR:858424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6b068eb-8b52-4c93-9531-f9fa370fbad5 CLINVAR:858424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24572de1-e41c-45b1-a463-ee86947626a3 CLINVAR:896170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54b83da1-14b0-4eb1-9897-548bd510ec8b CLINVAR:896170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38fe25fc-c0f6-4f49-9803-494685e6c05a CLINVAR:937756 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6901379f-d0e5-43a0-91d8-740a1d877590 CLINVAR:937756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d29f5ea6-563e-43f0-983f-f6aa909b6861 CLINVAR:946753 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d99ad0a-8bb6-4d10-ac9c-44b5dfe98459 CLINVAR:946753 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b6df64c-bc01-4230-b858-c744a99ff90a CLINVAR:948058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2ee99dd-5813-4de5-b5bd-9cdddccc887f CLINVAR:948058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a8197d3-64ba-4fe2-a479-d53c89c86ed7 CLINVAR:956926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bddd1941-e061-46a7-ab34-0e3aa56d2a9b CLINVAR:956926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 029c7557-62e7-44a7-8aad-5e4236a8dbb3 CLINVAR:961354 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32d9a4ac-99d6-4f33-bc71-9be49c6ec5ae CLINVAR:961354 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99de2c33-9dbf-48fd-a2b6-d3715be8b969 CLINVAR:966436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5f1dea9-6fbf-4402-8155-d5eec617068b CLINVAR:966436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d25589e-d1d7-43f4-b9ea-5bc59f673974 CLINVAR:1002421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3ea856e-5cd7-4cba-89e4-a85cb43161a0 CLINVAR:1002421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d065c16-f508-4b2f-a2f7-1638b422ecf1 CLINVAR:1010850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5aa0a6a-625d-4753-b155-17e8d3c5baa8 CLINVAR:1010850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f5bda4a-b27e-4215-817b-e4a2995ccd44 CLINVAR:1021717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 318bf2f5-12d6-4e33-a915-881958ce03fa CLINVAR:1021717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af215188-1ea1-498a-8404-f6cc9d91d02e CLINVAR:1378669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 586b4654-c036-40b8-8fa0-69e9e5bce675 CLINVAR:1378669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be6a1a8a-e4e6-40ff-9f9e-467e3c076bff CLINVAR:1439341 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33322d37-475f-4a6f-adc1-388f84b88a88 CLINVAR:1439341 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d8539a-0eb0-4eb7-820d-0c3263041ea5 CLINVAR:1465820 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7de027a-0417-461f-8777-06cd786b3024 CLINVAR:1465820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5414541-f675-414c-8e51-9127b261eec3 CLINVAR:1704949 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e0b8711-5e25-400b-8840-a19fa4f9de31 CLINVAR:1704949 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de341416-a7d1-40c3-aed6-610c7e5bad00 CLINVAR:1721570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee2774d0-9e50-4db5-a9c9-6a932e078538 CLINVAR:1721570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17f17afe-8235-41f0-ba35-f09a9e0095b6 CLINVAR:2001260 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7377a7d3-2ae6-43df-abe0-b511cedc7c40 CLINVAR:2001260 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 525347cc-c3c8-4e8f-9354-7ddb87bfad55 CLINVAR:2060834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c535cf7-0fc0-4800-8994-94d9629da09e CLINVAR:2060834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83b7222e-fe45-4cd2-b34d-05822a3cd449 CLINVAR:2061265 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b03be75d-da65-4806-8071-ae28c5fe4674 CLINVAR:2061265 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24776274-50d9-48e2-864a-f7d3d0320812 CLINVAR:2073628 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85a8eee2-e90a-4c77-bec8-f1cb5a3cdcf9 CLINVAR:2073628 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba1cc712-ab41-49fa-96f2-596f71fc75be CLINVAR:2418762 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f92501d-ad8d-4052-bc4f-926e8593c3b2 CLINVAR:2418762 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9be2a661-fa1c-4cfd-9f10-d44be7a0080b CLINVAR:2422003 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 157aca20-3d8c-459d-b40b-d0e9b8643847 CLINVAR:2422003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f4964c8-8e86-4138-814f-f528614a0b8f CLINVAR:1068986 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1052845-1e5e-43c7-9c66-f8421c68ab29 CLINVAR:1068986 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efe16f16-e75c-4a96-ac32-3ca60d3ec295 CAID:CA367403551 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a34bb04d-0a1e-4804-ba94-ee2a07c95985 CAID:CA367403551 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bd27f9d-fab4-45ad-872d-9671fc179dfb CAID:CA367402684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43e09719-8419-46a3-9e06-a73874e5dfa9 CAID:CA367402684 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c61ce2af-9be1-471f-a987-c4a266eddd32 CAID:CA4239602 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de6d127d-1583-44bd-a24b-2d28c512f9db CAID:CA4239602 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84abd8c4-2e36-4b3a-9555-bd48e6318583 CAID:CA367398804 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a07a94a-3478-4653-b2bb-1e4b82284c61 CAID:CA367398804 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b856d9fe-9bbb-4f61-a7b5-c6681dad0a0d CAID:CA367402580 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46235b2e-81d0-4577-8fe7-93f111fee88f CAID:CA367402580 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11402204-c926-4de7-b3ee-4c6fbacdcb16 CLINVAR:2581305 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40c472f4-6e3a-4489-b7a2-b78263b143bc CLINVAR:2581305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34851c2c-4f90-4b0f-8398-1f8e546d5b54 CLINVAR:1709730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3be9e8b8-dd4a-4b4d-9736-04834c7e17ac CLINVAR:1709730 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d74df38-c6e2-4ac3-a6f4-c2febb315ad3 CAID:CA367396980 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa724153-edc3-446a-8a29-6c76971cdeae CAID:CA367396980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64c64e3b-0e84-4a87-98e0-4dd29bc38375 CLINVAR:432386 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9991b74-125c-481d-a1d2-e344e7ae096b CLINVAR:432386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a780cc-f08f-46a7-beab-ea541fd19ccf CLINVAR:994613 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77b9fa93-3b8d-4e88-9528-7e654d96e806 CLINVAR:994613 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a99a5056-f5c8-44bc-9306-e4463cba7aff CAID:CA367399681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac06eb2f-612a-4e6a-a17d-32d1c23d866e CAID:CA367399681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ec90077-27fb-4682-8936-b47d041cdd45 CAID:CA367399678 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b1284c2-d3f8-4a22-97f2-4c761a4b5e78 CAID:CA367399678 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c23f344d-67e7-43fd-bdd6-508e7cddb9be CAID:CA913189165 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4408e245-a43b-47e4-afb2-6ac6aa661a68 CAID:CA913189165 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42a19903-f151-4016-8c2b-5dc018d1b816 CAID:CA2580617739 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f79d9afd-19de-4f32-b970-677d62445fc8 CAID:CA2580617739 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80555052-8ddc-47c7-8500-671ddfb573e2 CLINVAR:36239 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec486762-74dd-429e-a436-8b77fbf54147 CLINVAR:36239 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b27b25a-2e1e-4781-819d-4713c12aa159 CLINVAR:36233 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8035aa8-e465-4a08-aafa-5f23d4199e9f CLINVAR:36233 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08248c07-0436-49ad-a5bb-2efe09db113d CLINVAR:1490297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e53467d2-2d34-4dcd-a2f9-c8e157bb0262 CLINVAR:1490297 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40bd9b73-5032-4cf3-9089-79586c8f708a CLINVAR:995372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35112ed5-6bc8-4c60-86d0-053d0cd44418 CLINVAR:995372 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef8f9dad-dc0d-488f-9f75-f814e47994af CLINVAR:804856 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd628fa4-48f7-476c-8f9b-6be1879e1236 CLINVAR:804856 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f77ee77-aaaf-4a12-8973-be19fd28b72a CAID:CA367401545 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb2cb73b-fe2d-45c3-804a-fad07662b0fd CAID:CA367401545 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4537a165-d75d-4fb3-956c-b623d5e67d54 CLINVAR:198397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc8539b1-8f92-4b92-ac2f-ceab8ff5d19a CLINVAR:198397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 546af444-abc4-4308-a0fc-8ebcf3452cdb CLINVAR:9212 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d12b9176-df30-41c9-acf2-87e21eb86f3d CLINVAR:9212 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 980667c3-5b2a-4ca8-8c9c-a027bf6cb941 CLINVAR:36190 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 657950d3-8ef8-4d0d-9195-ed8e1d6bf6bd CLINVAR:36190 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ed9818e-0f15-4ce9-a808-1d1bd8bffedb CLINVAR:1496579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e12f84e5-1979-44d2-9d56-b271082ed0e1 CLINVAR:1496579 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b6c4f19-16f1-4f9c-b67b-8414e274d351 CAID:CA367399833 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1905c79-242d-4402-a3b6-c7947ffcefef CAID:CA367399833 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f13da9d9-8236-4311-b7eb-552343d52ec5 CLINVAR:846588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88a385a8-45bc-48c3-a6fc-8ea69e828aab CLINVAR:846588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a2a86c8-edef-49eb-945a-f4650455d64f CLINVAR:1338446 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b074c537-da62-4162-a275-192064638941 CLINVAR:1338446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4849f740-8e5d-4884-a348-eb9d4bd2e028 CLINVAR:1746441 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e20fb398-99ed-43eb-8765-d07000cb37d2 CLINVAR:1746441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cc28254-10f9-4473-a0d8-242af3db8f9a CAID:CA367400539 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2634cc2c-d411-4fbb-ac18-4a7042665529 CAID:CA367400539 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5900687e-b4f6-4311-844c-eebae5e086ad CAID:CA367400540 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e55dd84c-2a79-41fc-b99a-08bf66bb750b CAID:CA367400540 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dff37ab-87c0-4aa5-8d70-c32b0ee540ca CLINVAR:995101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af2644fd-9d23-4849-94b5-ccea4d814c29 CLINVAR:995101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd433205-3f6b-4d34-8b8f-d800ba2bab01 CLINVAR:2664355 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53232d44-61ee-4c0d-a4b6-5a27f563f780 CLINVAR:2664355 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc6bfec4-1523-4bb9-b1b6-0150dffbda82 CLINVAR:2664356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7190bc6-3975-46d5-9f16-917d183e43be CLINVAR:2664356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d8662fb-f950-426a-9ddd-c2dc3754fe4a CLINVAR:456370 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25a4dca6-d68a-4c24-9da1-a0850cfddfc4 CLINVAR:456370 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18359ead-7975-40ef-a3b6-018f57a9a990 CLINVAR:632823 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b284fb1b-4a78-4f62-9dc2-e54b810566c0 CLINVAR:632823 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 784aacea-7094-4d9d-b7ad-2c8d7bbe5402 CLINVAR:289367 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 707f786b-3a9f-4939-80e4-53f2a29b96fb CLINVAR:289367 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08b7df94-3916-4718-9783-ed62bbea6165 CLINVAR:2151633 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8eeb5577-263b-4aeb-9ebe-6f437c483c66 CLINVAR:2151633 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64b21551-ca63-49ed-acd0-fad436bd3bd3 CLINVAR:555820 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 446f0eb7-05e7-4b7d-9b97-8143eceb2fa4 CLINVAR:555820 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0774914f-b8f9-41c7-8afb-bc6c26e3b5ed CLINVAR:371622 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ffda483f-3187-49c9-8ddd-d06ec694b9cc CLINVAR:371622 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4823fee-831e-4c90-ba56-56235e844951 CAID:CA367401747 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a5f6f02-372d-4fae-b6fa-f5c2ce876068 CAID:CA367401747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2f4e47b-c1b8-4554-9dde-6412c2a08be3 CLINVAR:585921 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a85aa2b2-d42d-4faf-b28d-9bdfa3c952bf CLINVAR:585921 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 517b52c1-f3c3-402c-a3f7-be42c84959f7 CAID:CA367401907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1154798-9438-4c72-ad67-0de40575426b CAID:CA367401907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1c25fbb-af5e-4fd8-b9c2-49969092b7a1 CLINVAR:585917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09b6d300-9848-42c9-94b2-6642401bd32c CLINVAR:585917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6584f289-e186-4521-bbcf-a0767e822902 CAID:CA367403544 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4aaa7282-ec81-4a3e-bd06-979a4555a6af CAID:CA367403544 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ddb9cfb-b38e-424b-8f58-5d49555eb856 CAID:CA367358349 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen edfeb525-ccd2-412c-9c09-1a6ecafc9d71 CAID:CA367358349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f666edf8-7bcd-4aa6-a7fb-2aa75c70ac82 CLINVAR:561231 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd8164c1-3a5d-4de9-bc96-e59ba5867703 CLINVAR:561231 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cca1af1-0113-4939-9173-e5f1b4fce5d1 CLINVAR:1684431 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84265ef7-ec9b-409c-9973-4985f00720bc CLINVAR:1684431 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d767339-73c6-4fe9-b80f-49373e65c46d CLINVAR:1706546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66154015-6535-46c5-828a-b7d32b266190 CLINVAR:1706546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6424e1f-f2de-449d-a896-4cad6f548e78 CLINVAR:1073884 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac87112f-ad67-4feb-af89-b57368f28609 CLINVAR:1073884 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cc2f1b5-5556-46ef-9c76-d670b097baa9 CLINVAR:945290 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c59c04ec-e46a-41e8-940a-a5e813bcd6a6 CLINVAR:945290 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 278f5c74-b411-4905-b012-40a2dda0a573 CLINVAR:988837 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ec0f3e7-c34b-4c1c-b753-0cf93587e1aa CLINVAR:988837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b11372a-859a-40aa-af6f-bd0fa130784f CLINVAR:1074523 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2fb11f28-5f5a-4f2d-bbbf-be02d04790f8 CLINVAR:1074523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a8cb9ef-42d1-4b4b-95f3-de0300d3a0e7 CLINVAR:2123057 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da90a2f1-67d4-46be-9bee-638d711cc764 CLINVAR:2123057 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17d4d04d-8783-4d81-8389-9d8b3207bb9b CLINVAR:647118 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8619db4-8858-46d9-bc85-0c1de0780667 CLINVAR:647118 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fb126d6-6c2b-4165-890a-c143fc11ce97 CLINVAR:1684407 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6356ff9-3481-4576-9f57-188f7a93c027 CLINVAR:1684407 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aafa3a95-2afb-4e2d-8adc-60ee2e65a93a CLINVAR:1691247 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d6c9ebb-b6ca-4473-9945-56bf0efab322 CLINVAR:1691247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a615fb51-ee1e-4923-9b1c-7054009988bd CLINVAR:1691248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04b2eb93-e13e-42e9-a07c-b7087dd8a106 CLINVAR:1691248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40651161-5012-42f1-b415-921abd68afb7 CLINVAR:978818 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 968f0be0-47bc-4382-8d53-84a8e57a43a7 CLINVAR:978818 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc4e158-4044-4138-98a4-f81022436533 CLINVAR:988416 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d2f9b3d-aa54-4a29-becf-9f4238e46ac8 CLINVAR:988416 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170824c3-6360-4eef-aa34-dce007751eec CLINVAR:1013619 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e52c3191-17f1-4001-90b0-91eb86e0ec63 CLINVAR:1013619 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e26b90e-5ab2-464f-ac44-232eb5e984de CLINVAR:1071785 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19ab6bf8-5d85-41ce-a66a-e797acb0fa42 CLINVAR:1071785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca508af9-cc76-4d98-abe0-e3739db23fe6 CLINVAR:1692643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0963caf3-68db-4d4b-9203-4971de516463 CLINVAR:1692643 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ae3eb7-f75e-481f-a4be-39c2579ea882 CLINVAR:417476 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0a8b39a-bb90-4974-86b3-ff4312db710c CLINVAR:417476 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51025f3e-32ae-4f5e-9298-84a862d3fa47 CLINVAR:1460018 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd476b15-dd45-4aa5-9937-8a61ac785714 CLINVAR:1460018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4368bb71-805c-4666-b6e0-8fc1f40310da CLINVAR:832666 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7085910c-fd41-4d76-9ac7-d7c3df8ba082 CLINVAR:832666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43cb67c6-3b07-435f-8952-dfcc79b78a28 CLINVAR:1073907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d0c41b11-67d6-481b-a6b4-1e95e1c68123 CLINVAR:1073907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5becd061-ea44-48d4-a32f-ecbf7fc80101 CLINVAR:833071 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e0414fb2-546b-41e2-b209-5e4b5d05cbc2 CLINVAR:833071 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e70d79da-7270-4fb2-a928-cde55aa9f23a CLINVAR:871175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26d183a8-4320-4602-a4ec-071d63a09323 CLINVAR:871175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f11056d-a919-4270-95f5-d1509bf1267e CLINVAR:1065583 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d32014f4-cba9-4717-a048-bfdd8f510bd3 CLINVAR:1065583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 912a5623-35e2-468e-aebc-b443d0ba4dd0 CLINVAR:389962 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be3259a5-47a7-4d4c-99c2-81a3e3907ac5 CLINVAR:389962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bde1277-8056-4425-8257-9efbbf6a8da5 CLINVAR:1518631 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c389cb4e-a64d-457d-bfb5-8bec18c91d31 CLINVAR:1518631 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c363a777-758f-4f77-aa2a-d359b7ab1d0f CLINVAR:988808 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f07f5ec-5773-4a23-8445-c21314d436f3 CLINVAR:988808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7874f124-ff73-429d-8f72-0213b0f66522 CLINVAR:561250 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d44bb3d2-7254-4150-951a-96b688007226 CLINVAR:561250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 096f8711-2c48-49bd-9d83-58597a9796c7 CLINVAR:2665098 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c454d7ad-c119-4e2a-be1c-1d7fe7dc4c6d CLINVAR:2665098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b744cdfc-496c-4a57-aaf3-f137cd7946a6 CLINVAR:561251 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1c25897-7377-443d-8d2f-1075619ab34e CLINVAR:561251 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6027ec60-bb62-49af-8aff-fb07a875b0be CAID:CA2573320718 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9d2287d-1f01-4f4b-b3d4-1111b5190a8b CAID:CA2573320718 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c42637c-ee8d-4451-b6fe-d9b0eb10ae3c CLINVAR:2011850 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 422a74c1-3e2f-40f2-857d-1c854c2cefb2 CLINVAR:2011850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92f15f64-5b79-4428-bac6-081d6f56618b CLINVAR:2003897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd3199f7-9dfc-41ea-85a6-7976874b9804 CLINVAR:2003897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c000748-0276-416a-bffd-4bcaf2aacea7 CLINVAR:2014537 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96acc80c-7e76-4418-bad8-0f09be0e6062 CLINVAR:2014537 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e13237e8-2c7d-4adc-bbc7-963ccc9cc2b6 CLINVAR:2504110 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57b908ae-9928-4cd8-8ee3-959eedbe015d CLINVAR:2504110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbf702be-b556-48c1-bb0c-90c28eb9152b CLINVAR:561234 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff3395df-79d3-4f9c-a3cc-d3ce02a89e74 CLINVAR:561234 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca18c536-ece5-4ac1-bb40-19caea9ec402 CLINVAR:1338536 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5f30183-9ae8-4f24-be09-2b373753595d CLINVAR:1338536 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5b30e22-289b-476c-948b-063e1e208024 CLINVAR:2129871 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 795084e1-6c71-4895-9dff-9840263473d1 CLINVAR:2129871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fbf12d4-66e2-4cf2-8297-2b3d06870b6f CLINVAR:836448 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90fd1e36-6057-4b71-8911-85cfd0960148 CLINVAR:836448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec04de19-fcd3-4436-b3c4-323404797dfd CLINVAR:1996223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d823801b-c8d9-4425-8fbf-ece4219be878 CLINVAR:1996223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe22a2fa-2ab4-4a6e-a8af-09c1e1bf37b9 CLINVAR:2177591 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88bc99f1-a181-41b9-be5f-31f7f4d23f1c CLINVAR:2177591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cffdb3c4-aa88-4e4f-a18e-eeef0050b3cd CLINVAR:1703793 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5258a806-5414-469e-a608-d10153019b81 CLINVAR:1703793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac12e753-b16f-4d2c-8748-1ad81e15b414 CLINVAR:1349747 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6d4bfa4-37bb-42ad-a7d6-0d3dd6d5691f CLINVAR:1349747 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98662404-fa3c-4280-b828-8b01b3ac4d6b CLINVAR:812913 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9225ac44-ec28-468f-b682-f7c5dc2e6e97 CLINVAR:812913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79142927-4337-479a-937c-191b7081b5b0 CLINVAR:1067688 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4d78e47-b1dd-4e52-a4a9-22ebf64e7bff CLINVAR:1067688 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e139f0b0-ae75-4dc9-947a-86e7da2095ce CLINVAR:627152 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 271657b9-06bf-42b6-8a64-e545fc66193a CLINVAR:627152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5407c9b7-14ba-4f48-bc2c-476a91b3bd7c CLINVAR:1074352 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 953a8917-ed30-4415-bddf-f6f5c46774a1 CLINVAR:1074352 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02592982-90ea-4ce8-8d90-bba8e6c21bd3 CLINVAR:1013200 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fe0402a-60d3-4a7a-b83c-a79f1b04a3cd CLINVAR:1013200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f3220f5-d6a0-4454-a454-b7ab6389c752 CLINVAR:640550 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d14a3fea-709d-4168-abd2-b1eac3c8900c CLINVAR:640550 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8bd5084-f4c0-47f5-9ea3-f248f07fb16e CLINVAR:189402 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8414cf73-84b8-4e60-8319-bc103f9db58d CLINVAR:189402 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 851aeae3-05f5-4f0f-a374-de34275e35cb CLINVAR:373446 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e30ccb0-612d-4703-9aab-3d7d9922910a CLINVAR:373446 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8595f35-3ebb-4e40-a975-61f96c378410 CAID:CA367402681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f72bc2c-d6b5-4a44-8c82-5295a445009c CAID:CA367402681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f3f7a9c-6c9a-4953-8e17-a21b6958072a CLINVAR:585918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9159a6ef-0040-48e4-a766-4ce81f9fc42c CLINVAR:585918 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3156726-3809-4f46-b414-18d087697191 CAID:CA1703634895 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d66a0bb-d9cd-43b7-99df-bfa241bd8349 CAID:CA1703634895 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69a11f7d-b10f-487f-aebb-c359e5f18640 CAID:CA16621927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c1f6f0f-e092-4f2c-a832-94c6721b2666 CAID:CA16621927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03a29a21-9149-4c09-8ef6-06706a422ec6 CLINVAR:280031 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56e3bf02-7983-408c-ab55-2b3ff04fbd0c CLINVAR:280031 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 840fc7ef-e0e2-4143-9fc3-20b79856a0ea CLINVAR:2073656 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1de6cdaa-b349-4219-800d-b1cb042fd2b6 CLINVAR:2073656 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ef9266-286f-43e8-a7cc-652206d0bc6b CLINVAR:450754 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf8984ca-140a-4a68-9ee7-43829ff8499f CLINVAR:450754 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f35ece0-a641-47b5-a1a0-5459c1469c17 CLINVAR:890134 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0350a91c-e02a-41a0-89c3-446b44590b3c CLINVAR:890134 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e35323c6-b7a4-46ac-9f4e-fd26978a5f8a CLINVAR:1684324 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcc35f77-2951-4277-beb4-ef81c60e199b CLINVAR:1684324 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b584aa5-b64d-4628-bf83-d23447734859 CLINVAR:1048589 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02b09ddf-c3aa-4e23-918e-c9070b93af5c CLINVAR:1048589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a2ad17-79e0-405b-978e-78fc5a0885f5 CLINVAR:1348299 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1124fd70-5dfe-4548-8c81-7ba370b99e66 CLINVAR:1348299 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3b9eb3d-80cd-4e61-bacf-93e582b6fb0f CLINVAR:456402 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04594f25-b90f-4aef-9917-ed5a9663adc2 CLINVAR:456402 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3b244da-b51e-46d0-8407-8f14a39e86dd CLINVAR:593593 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfc2da49-524e-46a9-b3de-85296bc11041 CLINVAR:593593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3fc54cb-38c0-4204-ac99-43896ff58fb1 CLINVAR:664582 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77816abe-6f45-4df6-8ef2-c9909bf38329 CLINVAR:664582 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8fc3999-110c-4905-8aa7-b09f354dd2fe CLINVAR:285589 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3079c0d-73b6-4fe1-8ee7-be8eb8cd9f4f CLINVAR:285589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d66292a-1a84-4f7c-8cb9-78dd433c17ef CLINVAR:510585 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17597cb4-1e14-4490-80ae-5ecc15f0a80a CLINVAR:510585 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e557e3d8-9bdc-43b1-9a36-8e005a59356c CLINVAR:447518 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5918cd76-f5d4-424a-a970-065a23d079aa CLINVAR:447518 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8fcab4e-2170-4c36-832d-e8516b67d8b6 CLINVAR:972785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81c0ac7b-157e-4eed-865f-9efbdb486659 CLINVAR:972785 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78b49286-e8f3-4a11-be1a-3122fc31f765 CLINVAR:586019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f45ea3a-621f-4011-a0a9-835d57c99784 CLINVAR:586019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c0d0ae3-6764-4fe8-89b4-569b94d541d7 CLINVAR:133249 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 517b4a44-ec27-46c3-8614-65e0bcd233a2 CLINVAR:133249 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b01fa317-c1ce-4b27-b739-f2e7289e10dd CLINVAR:102688 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93b0017e-46c8-42e9-a509-3355c2b986eb CLINVAR:102688 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a77f7c7-eff6-4d41-b2f7-be1d8eed3502 CLINVAR:188933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1dbc70a-61f7-444e-a788-243d87c1f195 CLINVAR:188933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e81d0b5f-4482-47b1-93f4-c33bcd6587fb CAID:CA16020772 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ae0e4e1-a762-4115-89fa-5e1627487ada CAID:CA16020772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f44f98fd-fc05-42aa-8d0a-1ed4f8a16496 CLINVAR:102639 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f38f124-79d9-4c47-9064-25f6d29e32eb CLINVAR:102639 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af93ce44-72ad-4b71-9dcb-e126fbe3a27e CAID:CA16020833 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f27b9538-7b5d-4777-9cd1-1e43bc629a71 CAID:CA16020833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c988d64-1808-40fc-81c0-7a670e073cbe CAID:CA10602335 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b650ace-3203-45bd-81bf-721cac2e8e51 CAID:CA10602335 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c2fc8fc-6fb6-492b-81b7-be9316add865 CLINVAR:1458264 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9712b643-ad17-4528-84c0-eefda9e6b696 CLINVAR:1458264 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b290656e-2360-469f-a073-112d51ea7eee CLINVAR:102899 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d34fb6ba-2aef-4cf8-a070-3a3c7f233a21 CLINVAR:102899 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a31cfc64-1b95-4ad8-b1aa-09a13bfc1aea CLINVAR:102896 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9bdd2c3-56f0-4aa1-8679-5cd43bdbd841 CLINVAR:102896 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 439fca15-2636-46af-a020-1dd9ddb962c7 CLINVAR:102586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40445446-ea79-4214-b344-957282dbfd37 CLINVAR:102586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8a61214-17a9-4491-8e1f-7f5782192bde CLINVAR:102907 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 971573ea-34e0-4df7-9713-2edbb9544e8f CLINVAR:102907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3644866-241e-4f7c-9b8e-57488a611ad4 CLINVAR:102904 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8dedfda6-ca9d-4f6f-b55d-4dc14a3aa307 CLINVAR:102904 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4974a8a6-1cd0-4126-b8e8-f645f9c32f7a CLINVAR:102912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6755dc9-8606-4bd8-8a5c-21c431e35f25 CLINVAR:102912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efa134cf-d47f-4292-855d-fb3883909069 CLINVAR:623 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ec83cb1-b858-4685-8ba2-b84600a75254 CLINVAR:623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d11b5ce-0238-4568-badd-5ea88c257192 CLINVAR:439226 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f483a8f3-fbec-4579-9789-7128f18cdab7 CLINVAR:439226 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08846f7c-07f6-4afd-9944-095d4e98b3b2 CLINVAR:689636 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b8a7d26-671f-4538-a920-45d63eea7e49 CLINVAR:689636 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e975ac6f-68bd-4d1f-bdd3-8a1b4e2959d5 CAID:CA367396714 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e0919ed-0865-448d-8656-3a35f48efdf7 CAID:CA367396714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2df01a75-e9d1-45be-ae6b-f0afc1c231d8 CAID:CA367403522 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 949c42b2-f968-46f3-b108-c0fec75f1b1b CAID:CA367403522 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cac7fb4-5e6b-4f4e-b5fc-6df35204a8e3 CLINVAR:420070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25fec08a-56cb-47a7-87aa-44db86ac4241 CLINVAR:420070 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5330f967-dc4d-4076-aa97-92ce2f05178c CLINVAR:129142 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27d5347f-4080-47f8-8518-b9bae39c6c7d CLINVAR:129142 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb6f2b1f-426e-48c0-b4ab-e116a8e2e61f CLINVAR:439709 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 374754b6-ed34-4ab0-a0bc-3d24e28187f2 CLINVAR:439709 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6e61f9f-e681-44c4-9f7a-1b4a9d6ad516 CLINVAR:1083041 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 948cda89-03e4-425c-a009-a534d7db8db7 CLINVAR:1083041 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b30e68c-b972-41cc-9d14-b758cd9ddff1 CLINVAR:1125979 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d570f99-8ae1-42a0-94fd-b9613dcaa471 CLINVAR:1125979 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d8e6c6-c291-4e84-be30-94382a5ee62d CLINVAR:224133 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54a81d96-b395-48d4-8e98-c1d5de0be25c CLINVAR:224133 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79e1d1d5-77c6-4e06-8037-f856709a4185 CLINVAR:502478 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42ddbe44-2a0b-490a-a791-b2d7487069aa CLINVAR:502478 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6943a718-7ce6-44ff-81a4-a720944b63a5 CLINVAR:932847 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b065ea18-620c-4189-8777-a8de4839bd54 CLINVAR:932847 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a67842-e808-425f-8089-42e17fe5dc48 CAID:CA415087450 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28cf2412-e0f1-4a59-a831-2153e90538dc CAID:CA415087450 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7383977-1fe4-4d70-8080-517a94a29857 CLINVAR:203574 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1b029a8-d0c0-451e-baac-e138662ff496 CLINVAR:203574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c67e987-d8b6-42d1-8da9-6331b0097f86 CLINVAR:11698 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44f9905f-ef44-41f1-8cdc-32091104b995 CLINVAR:11698 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be2b89d8-c813-46ec-bb59-7b499f4bc88c CLINVAR:429893 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9eb917c7-951f-48ce-ad54-4734277d0e1c CLINVAR:429893 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4450f206-1168-4a7b-bd36-b107fe61d22f CLINVAR:421767 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f926ec6f-fc78-4b33-8802-aa5b1b844586 CLINVAR:421767 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c13d663f-e9c8-40b7-878f-9172baf0bc24 CLINVAR:1319163 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d549b59-5066-482d-8851-76ec90d0b903 CLINVAR:1319163 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb7291f5-86e6-400c-bc0b-fc9671aaad97 CLINVAR:328352 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7f2dbc4-24cd-4df1-9c4e-78bb5aef9577 CLINVAR:328352 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 480f51d2-af4b-40e4-8b0a-0a872226e99a CLINVAR:16466 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cdddca4d-d9e6-492f-a360-8033f976c830 CLINVAR:16466 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8458b158-c3d8-418c-ae88-9cda108ef03f CLINVAR:155951 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3030883e-192e-459f-aff9-a2ba1251cf02 CLINVAR:155951 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dd6f7b6-935e-4d51-96c8-df49d94397d3 CAID:CA2579985999 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc31691c-2737-4118-b66a-a12bcf0309b4 CAID:CA2579985999 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be3115e5-437f-4340-9860-9de662795dd2 CLINVAR:956400 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae7bf549-6038-4ae9-bff6-ad6ba8b0e42b CLINVAR:956400 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8687e6d6-ed28-45e7-87c4-850e966dfd60 CLINVAR:2412845 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab20953f-ce5b-4071-b1ac-e65ef0bf7c36 CLINVAR:2412845 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 327edae2-880a-412d-a585-ecb08820c06c CLINVAR:65692 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen baaf2ab5-70bd-48f2-9657-469bf40db4fa CLINVAR:65692 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f3aa41e-8f68-4a38-9662-c97f508e7c18 CLINVAR:932737 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1ca1698-5ab2-4666-90e8-36152563930a CLINVAR:932737 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ff37f7f-4c62-4598-877b-0899eba83be7 CLINVAR:636961 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba050d37-dcb9-4e92-a806-45f412deb977 CLINVAR:636961 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f93ed65-8bbb-409f-96c6-1373497c1aba CLINVAR:867228 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 541f729e-b586-47ad-8713-165717b5c261 CLINVAR:867228 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14b680f9-d5a5-465c-9a45-efbec16f77b1 CLINVAR:858462 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ad148db-7b24-40c1-bcbf-284ba05df811 CLINVAR:858462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 188bcbb4-33a4-4719-9eff-ec324b0e9f60 CLINVAR:572229 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0286a51d-3dc4-4832-be65-8e10831b073b CLINVAR:572229 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa63da6e-8072-4c91-b1c5-4fc32cd76d87 CLINVAR:549451 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48f44c31-dbe5-4cf4-82cb-d594f2b5bc95 CLINVAR:549451 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 810f775f-5449-4073-8671-2d896bd2d02a CAID:CA397723375 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8dcfe027-4d07-430d-8f42-c3da9e3480f5 CAID:CA397723375 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 930a9813-0ccb-4d73-8c0d-a3fe2cfc71a1 CAID:CA2580610966 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d98205f5-c74f-4cb3-a642-0323b243b6fd CAID:CA2580610966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47b3da30-7748-4c56-a2b2-d36b9683740a CAID:CA415090844 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0fb319a-7219-4f42-9612-82188a91d734 CAID:CA415090844 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0c00084-7d97-4dc4-ad0f-e3a49a31a2f5 CLINVAR:549178 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1776f54f-ad70-4872-893c-ac425526ed9e CLINVAR:549178 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb49300-69d5-4cf3-8618-244f17e30b73 CLINVAR:2138184 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e796691e-597b-4e0b-a5c4-58aabbccea34 CLINVAR:2138184 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01330a3a-c25e-4c68-8024-3e655cc4bef1 CLINVAR:1387019 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b94a13f2-7661-465e-a8ba-f61697966931 CLINVAR:1387019 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0876a4a5-8870-4146-baf2-36c9d8d2c0aa CLINVAR:495563 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3962058-f650-440e-b4cf-0a7c853db113 CLINVAR:495563 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45e33312-fd14-4d8a-ad76-4266991a7786 CLINVAR:477251 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1835401-e1db-480a-be76-9f2ba5e0d277 CLINVAR:477251 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 825b956e-f9d6-49c4-a885-d82d44e0fae7 CLINVAR:2419155 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94793b05-ea10-49d3-9e13-1e1cddd9226c CLINVAR:2419155 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5baa0a9e-4424-4e85-aec6-4517a96cccdf CLINVAR:374123 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8283d850-8d57-4489-b428-a64920cc7660 CLINVAR:374123 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b690142-4e35-444f-ad28-f93ab8d13d8d CAID:CA415084391 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b09abe1d-21f7-41b7-8a72-49e3f97573df CAID:CA415084391 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84f7b864-4c2c-483b-918f-58a20acaba34 CLINVAR:420991 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfd88ecb-0b0c-4a73-8f2e-63626ca4c02d CLINVAR:420991 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2decdba3-06fa-4559-a37e-acc16bdc570b CAID:CA397723872 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26327c04-9092-463b-bd10-120880d54ee0 CAID:CA397723872 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90a3b98e-1c8c-45c5-9696-25f1e6396098 CLINVAR:11696 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03540106-b110-442b-b89d-da4b9f32238a CLINVAR:11696 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 887b65f2-eadc-4cd2-90f9-e2d7850567ea CLINVAR:516841 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd5e7360-d4e3-45ce-ab93-d200c524e1cb CLINVAR:516841 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f279468-65cf-4c79-8732-cb6ee2a541d2 CLINVAR:549024 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11dd7267-3023-4b32-9d39-29ae6e05e30f CLINVAR:549024 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9c2df1d-c5e1-496d-8a0e-d4233b92de94 CLINVAR:804917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 477e76d9-9151-4c54-b274-964ec986b0c7 CLINVAR:804917 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17f93fc2-87b8-430a-bb8c-6213bf452a5a CLINVAR:695019 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac702832-f6d5-426e-832b-a79c8f08b012 CLINVAR:695019 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dc63de0-05e2-48b0-9736-dfdd70c7920c CLINVAR:549476 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38b3911e-02db-4502-be7c-1287d501a3f2 CLINVAR:549476 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 906bf414-523d-499f-878f-02ca9c08c9c1 CLINVAR:661301 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6ca8799-db89-453c-b7d1-ad943d489411 CLINVAR:661301 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d12bb88-af65-4791-8b6d-567c49d8e915 CLINVAR:163461 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aca4df85-b53d-4417-a97d-960cfaafa12e CLINVAR:163461 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b16b58a-f1a8-4b02-abc6-98b1fdc99a31 CAID:CA415090882 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 730738ce-7676-4ad7-83a1-41f08233ebc9 CAID:CA415090882 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32167df2-0461-48ca-b5a1-d54d722543eb CAID:CA415086484 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 711f355b-b516-4f47-acbf-248ac38c2916 CAID:CA415086484 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 793bc5a0-f832-446f-9a82-ab5f141366cd CLINVAR:254305 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39c6919f-3f96-43c2-b34f-4dd95e61f46a CLINVAR:254305 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59df7be5-7051-4789-9bd6-533c0033cb05 CLINVAR:549013 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bde26d3d-4afc-4d01-be3c-f3f3ee8f1709 CLINVAR:549013 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5c7f79b-9bb3-444e-8c30-1259c4ce7323 CLINVAR:548999 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24a9f668-e5f0-46cf-93a4-f3eae2b82010 CLINVAR:548999 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2afa4b5b-6140-4343-8f78-1f2351ec5ff9 CAID:CA415088445 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c0dec42-9ff2-45ca-ae6b-4b196784e8c4 CAID:CA415088445 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e7144db-cd85-4a8d-b02e-5c07e94873e6 CAID:CA2580610965 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf9f3c09-3fa7-4b1e-9a7e-876f16a3ccac CAID:CA2580610965 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa7f1f7d-3e26-4adb-8f04-894a097304cc CAID:CA8338094 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df76f036-5866-4423-87ed-8b48e4c42c2e CAID:CA8338094 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f2d49f9-13ef-4527-ab12-bb3d7bc5fdba CLINVAR:200193 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ba64ad5-58b1-4cda-a9d3-f977e0b92ed6 CLINVAR:200193 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7728b19-7bc4-468a-b440-0fa501056db8 CLINVAR:932846 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61993f72-d0b3-4f39-87e7-66c745b9ce8a CLINVAR:932846 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0513fb75-4097-48fb-9b50-79203dbeb311 CLINVAR:636640 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75afaab2-4f2e-4a22-8409-03c04076836d CLINVAR:636640 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed75eae4-88ea-4347-9859-e6f1a366b36c CLINVAR:429431 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d453bad-7bbc-429c-96f3-4c3a15e31e6a CLINVAR:429431 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d6f0b8-29e0-4e60-90ba-c14850824ec5 CLINVAR:178034 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e53d83e-f28a-46a0-bc35-b0e50538caad CLINVAR:178034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9122bce0-a1f9-494f-9133-3e3b457f5086 CLINVAR:544257 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e62bef17-2cd0-41e6-8904-91f4357f4b39 CLINVAR:544257 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2146d46-78bc-41ed-82b4-3b06b8c7eb76 CLINVAR:549229 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5e9ce81-9569-438b-9ea4-9f4aad8ad1b4 CLINVAR:549229 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccef59f9-f77c-42a2-9623-640dc2016ea9 CLINVAR:2683728 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a52abb01-761b-4613-a249-cc619396b164 CLINVAR:2683728 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b473a23-38b2-42d2-bad2-75fb2e32a24e CLINVAR:554546 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ad9d552-8f4a-4fee-b0b2-ad42e8d24a00 CLINVAR:554546 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef1a20d9-beea-478a-82ae-54300d178fcf CAID:CA915940477 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9d76393-460e-4df3-8a76-2fc80b333460 CAID:CA915940477 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43376a39-d040-4f70-b6d6-5408d5ebb026 CLINVAR:588631 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e12d6cb2-3604-4f3c-a3bb-35ce53d183cd CLINVAR:588631 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14886d55-b4c0-47ca-ab88-5b0fec910015 CLINVAR:646976 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26a9c163-15ae-4b19-997a-d39c33cff119 CLINVAR:646976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74555540-5e85-493b-983f-f5e20d17414c CLINVAR:932789 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae4ea199-ba25-4fac-b3a4-482a31a1f57b CLINVAR:932789 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90cf7e8a-5cae-41ee-a811-d22616ff87d9 CLINVAR:522433 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 327e9918-521b-41c1-9a12-0aaca88983ff CLINVAR:522433 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 324cac50-d43f-40d2-aba7-e5fdf323515b CAID:CA402996840 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17c192d9-a189-4292-8af7-7701218389b9 CAID:CA402996840 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ee35391-a33e-4f6d-a90b-19c8b9297486 CLINVAR:549001 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3dbd0094-5fe9-4499-be53-14bdaf7ebfe4 CLINVAR:549001 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a52840f8-c9cb-420d-9a1a-2626379340a4 CLINVAR:1703957 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 278c94d2-1181-41f2-bff5-9db0b66214f2 CLINVAR:1703957 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79a1d43b-b16d-43a4-9780-bf9ba3d16486 CLINVAR:477250 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c38ec0b9-b208-47eb-aa0c-5dd64601be6d CLINVAR:477250 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb6ba77-6afe-415a-ba5f-acfc8ef9d2d7 CLINVAR:1143525 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b75ca6a2-959d-475f-9275-8bac1cc511cc CLINVAR:1143525 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e85ef7f0-64b7-4ddb-823d-d8c3e6cfac00 CLINVAR:406288 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70e0eddb-e828-4c4d-8a59-930358b74959 CLINVAR:406288 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d59269d-2b8a-4343-9c4d-cab57f55559d CLINVAR:818179 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb8dae0d-5305-4a53-991c-42587d184dff CLINVAR:818179 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd9f7a3-04f5-48d4-8e42-c5aaeff0e4a4 CLINVAR:11700 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55e8cf93-d6eb-4c9f-a6ef-430df389f79a CLINVAR:11700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 294f9aeb-a7a3-455d-bef9-76488baeb955 CLINVAR:1003911 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f469bd33-98b6-4177-b0c0-1d450faa7df9 CLINVAR:1003911 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9172ad83-0b75-4ecb-8a07-4d6c2f9dceac CAID:CA415087684 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec9d01f2-e334-44d6-87cb-728194dee4f8 CAID:CA415087684 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12de6a46-bc3f-4335-80cb-e5d5c40c2d10 CLINVAR:892468 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f39b6676-b6be-4b5c-b773-35ac08d907d0 CLINVAR:892468 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b6fb09c-a5bf-4e6a-90fc-541d4e746f3f CLINVAR:706747 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b178a1d-3e45-4621-848e-27496e711162 CLINVAR:706747 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df71a429-5f1e-49f6-ad3d-8665835d4b98 CLINVAR:2421360 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ab4cc36-9799-485d-ad40-1e9245431634 CLINVAR:2421360 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae4a56d9-e447-49e9-ad76-b89db31b3ffb CLINVAR:2683726 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ded96e2b-a69a-493a-9111-25395ac93622 CLINVAR:2683726 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53a05845-5c64-492c-8458-583c8769bd0d CLINVAR:180355 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c43c9811-a36c-4818-8fc9-40fa861d86c9 CLINVAR:180355 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3127e0e3-19de-4450-a600-e52b7950fc4b CLINVAR:1325422 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 253fbd60-41e7-4432-b69a-bd27ee891553 CLINVAR:1325422 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c1994f9-ec32-4013-a1ba-ddb0890f51d2 CLINVAR:495609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb9f62e0-3df9-4e3e-be4b-d4a21089f27c CLINVAR:495609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f66d5b53-c604-4656-aded-12e3d70243d1 CLINVAR:155793 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 458727cb-3325-4f04-896a-a7c981359ce7 CLINVAR:155793 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b61821-812b-498f-aeaf-2d87b00938b6 CLINVAR:222604 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1d8c8bf-2d70-4c07-81ca-5ebbff5f404c CLINVAR:222604 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18e765c2-34ce-4188-950a-3c021d758753 CLINVAR:449440 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 318c096a-5b87-4a10-a13e-a6b0e918810c CLINVAR:449440 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0f8020f-3162-4798-871a-badf578f2f94 CLINVAR:626882 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1161f50f-074a-4965-905a-f1992dd56f62 CLINVAR:626882 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e65764b7-b268-4422-9e38-c69927bdc4e9 CLINVAR:495599 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f639e89-d1be-47c2-8139-85bbee8783ff CLINVAR:495599 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 326329ce-783c-402a-b55b-1040d640e96c CLINVAR:495594 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fd3373d-8113-49bf-a750-74b67ea5eefc CLINVAR:495594 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77c53a13-37de-414b-a376-6efd8a259a85 CLINVAR:549169 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 625c00ff-55b1-4e18-818d-1521c427fdfd CLINVAR:549169 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d7e190f-4b3a-481e-ad15-288d0b2cd31d CLINVAR:263660 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a90314c-8f8b-4e32-b60d-212962b6a393 CLINVAR:263660 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90816ea9-8a59-43d6-adaa-7b1b5e58657c CLINVAR:928903 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0eeb91d9-a261-4659-8a0d-4e1a9f1abf49 CLINVAR:928903 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b036b6-9480-4f07-81b6-15221df799d1 CLINVAR:222600 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5dcc81ee-8ac8-4ad4-861c-e5e9098f447e CLINVAR:222600 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed445676-1414-4d15-b37c-57394b9cbc90 CLINVAR:549150 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d23a3607-8c67-4ce1-b425-94c349d87b05 CLINVAR:549150 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03b66001-ecaa-44e1-b862-eac508c313b9 CLINVAR:915814 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2af13c93-cfe5-45bd-9608-f8cb24b2c679 CLINVAR:915814 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d51a730-a89d-45da-a35c-e13124e51871 CLINVAR:264089 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ded698c6-cc95-4b9e-9177-53ee883c2464 CLINVAR:264089 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cded64e4-c390-4ce3-9998-a1ff11c1696c CLINVAR:549070 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45c2aa11-1ade-41ec-910f-6dcd7b9682bf CLINVAR:549070 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dc599a1-6776-463f-92c9-dd535d86f347 CLINVAR:519758 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b008ccc-9e89-4682-9984-8e2b7dc47903 CLINVAR:519758 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a1edb2f-716e-4282-8999-3b4a350e8e18 CLINVAR:98872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de7f8b05-2194-4ce0-b81e-4ef8d5e56641 CLINVAR:98872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04069e5a-6a9e-49fa-a2e6-f05e7a179776 CLINVAR:13114 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a64ab49-f6fd-4f64-87b8-fd6c909bce6b CLINVAR:13114 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc1f89c8-24ae-4f21-8098-1d2ba8dcf38b CLINVAR:98880 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aac7a21c-276b-415d-9d0e-c87662a78273 CLINVAR:98880 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2c5b176-1b09-48c4-864d-905358ae7ddf CLINVAR:660359 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c10f1074-0500-41f0-9975-a53a6a8546be CLINVAR:660359 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c540aac3-62fe-4b66-a5ee-fa39c0a90059 CLINVAR:98899 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61690be3-736a-406d-9d93-c88f7f26d36f CLINVAR:98899 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d91e2fab-3a9d-49a7-8843-a2ab2a4af63e CLINVAR:98825 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9fbec540-69e3-4987-9c59-eb3e30b46cce CLINVAR:98825 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b59edb-48e8-44c6-be46-03124258efa3 CLINVAR:1067786 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen beedf1e8-af83-4f89-8f30-ba8e5b768062 CLINVAR:1067786 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9743841-4bc8-4a72-967b-a243c54feefe CLINVAR:13117 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a8b2dd9-cb16-42e4-b8d0-975708a14735 CLINVAR:13117 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ede996a-3eb7-48e6-9ca8-8e95f073051a CLINVAR:1070755 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42fbb5ab-0316-437c-af86-9f4c4713af0a CLINVAR:1070755 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 758bc01a-73af-4741-a5fb-89a0fc7b2640 CLINVAR:1380036 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7eadea4c-e863-463b-a424-43e87e812458 CLINVAR:1380036 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab0d0801-b2f2-4120-a592-f56006bc0952 CLINVAR:547296 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d718a18e-f300-4f9b-8ad8-2e89651d7323 CLINVAR:547296 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b248a322-1713-48c7-b317-e7c714b672aa CLINVAR:555394 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 330de323-aa28-4a8d-8137-5c3565451498 CLINVAR:555394 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f319c385-2969-4a0a-848c-f5d1665184d4 CLINVAR:1023481 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72e5e155-287a-4d60-b44b-b2450e161eba CLINVAR:1023481 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66e88fbb-b130-49b1-8c0b-605178b42ad5 CLINVAR:2683727 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1fcef640-3beb-4d3b-8faf-87b4c32a1ee6 CLINVAR:2683727 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3232e2f9-e00f-4087-ad95-42bcd838c2ed CLINVAR:854099 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7e4c4a7e-108f-4928-9488-2ea61fdf8e3e CLINVAR:854099 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f83261b4-919e-4d7b-8b64-ce63e0d566cc CAID:CA415087966 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de91f8af-f776-47ab-bbb0-70d69e864abf CAID:CA415087966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3598197e-320a-45d3-bb7e-30fd01b45a49 CAID:CA415090808 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97c63af7-b8fa-4d5d-9917-2db0e89c8056 CAID:CA415090808 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b0dade6-f7fd-4923-b8dc-4e19b2b27547 CAID:CA2580610964 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52ef403e-b735-44e5-96b2-6983f3223f02 CAID:CA2580610964 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e7cc068-e1c0-4956-810f-fe6cd6d63f3e CLINVAR:618516 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4046bb67-4900-4dbf-a348-a59edb6b4e5b CLINVAR:618516 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f3a3155-20fc-479b-9572-6ec49affd4ab CLINVAR:338506 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 592219f4-efe2-450b-88c9-cc7c72c64cde CLINVAR:338506 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e6b4e37-ebcf-46f4-a8bc-f1c72760787b CLINVAR:1966 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e8260165-a1c0-4e9d-914d-e05eee71b5cd CLINVAR:1966 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 175eafc3-efbe-4a30-b0bc-0e6e15cfe34a CLINVAR:968664 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1534758-a5da-4d6e-bc8b-0b8d87cea557 CLINVAR:968664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 436abd5f-57d2-4a0c-bb7c-afcb73565eb3 CLINVAR:419664 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa375183-492a-4c11-ab6d-9b80b868ee49 CLINVAR:419664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95f5a53e-f60b-43be-9b30-934ee95fdb00 CLINVAR:418256 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cdb0362f-9dcb-4ff1-a8a3-01b15154c609 CLINVAR:418256 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 238707f1-1cb8-4507-903b-41ab3203d897 CLINVAR:804024 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 296e40af-732b-4eab-8a79-850f2f1324e1 CLINVAR:804024 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a27955-86b6-4673-95d7-31518e18c383 CLINVAR:505549 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6783ea48-7df0-4c47-94dc-c9ca9a3b6046 CLINVAR:505549 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6429eb5f-0991-4d7b-96a9-f2ecef71a61e CLINVAR:1979 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8210a9f8-9fbb-4f44-a6ec-dbf32466041b CLINVAR:1979 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c96750fd-e094-486b-9391-a8423f2bafbd CLINVAR:68264 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d70349e-c11c-473d-aec8-b1f05f45cdca CLINVAR:68264 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd773d20-d593-45dc-be73-fa9e9d8a25e9 CLINVAR:1963 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9f0e066-f443-4aec-a464-73b072d33dae CLINVAR:1963 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2252942d-0864-4d60-8767-648af4c097a6 CLINVAR:468281 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14301939-de73-400c-ab58-96fcf9421dab CLINVAR:468281 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d42d956-e7c0-4e34-ba5f-e38ca0f0782d CLINVAR:1075328 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8846cf7-c61e-44ee-aba4-5fd8754b502e CLINVAR:1075328 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fb30331-59c5-401c-95ab-b67bbe299705 CLINVAR:1957 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ea91261-cfc9-42d6-bc6f-f8e57453e765 CLINVAR:1957 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cf24685-3aa6-4296-ab5c-918d339a47fe CLINVAR:550821 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 469eb894-85a0-4566-9188-1019244ac50b CLINVAR:550821 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5841cfc5-1c8c-4107-90c8-5aae7b19256b CLINVAR:1473380 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 339f1e6d-416a-4b7c-9b3f-419dad61224f CLINVAR:1473380 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c966979-9ce9-47be-9def-a689bdef5b5e CLINVAR:1969 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cc81e74-5388-4afa-a761-ba287826d9e7 CLINVAR:1969 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf3038bf-06d3-460d-b76e-d6bbe12490ea CLINVAR:254216 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33bf6f3d-f9be-49b0-b4c5-15e35370c838 CLINVAR:254216 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fe60b16-a856-4065-b36f-aaf1857c38be CLINVAR:986350 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a790dc02-80ca-4ab9-80e9-b1aa4cdba635 CLINVAR:986350 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46287b47-69fc-4420-93dd-c25367127eaf CLINVAR:1713265 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 580d9cf3-30f5-4e61-89ed-4406d4075974 CLINVAR:1713265 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bd34824-c79f-47c2-a9ac-f95e83134df7 CLINVAR:1069380 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29b633bd-41e2-4ce7-a3eb-5317c92fea63 CLINVAR:1069380 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad1f0c59-f103-4c70-8380-d128c48a439f CLINVAR:254217 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e062bf0-3561-4e76-ac59-009524b22a17 CLINVAR:254217 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95da6d4e-fd69-400a-bc1f-cd5ed04c7173 CLINVAR:1679474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c658d99b-7de9-4100-b0f0-815390247950 CLINVAR:1679474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84e1362f-0e7f-4e34-b1c7-00bf06bcaec0 CLINVAR:1696158 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6de0a835-4917-4f81-badd-995cfe6ded81 CLINVAR:1696158 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 027ab72f-68a4-49ce-9664-76706fd9d8a5 CLINVAR:804345 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3140190a-490f-49bb-bcba-dddfa426bd2d CLINVAR:804345 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0af7002a-1484-4cf9-b00d-5520375dc35e CLINVAR:353259 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33ea731c-99b7-4035-8725-cab0a66af79a CLINVAR:353259 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3167a26f-ad6f-40b7-91dc-ae2430aaedf9 CLINVAR:36392 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f041973-f660-4074-9a3f-3ac6e606869f CLINVAR:36392 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 944541c8-e083-4bca-8f02-407ede5bd0a3 CLINVAR:224841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56db7b5f-ebf0-4e9f-afe4-0af0214cdcaa CLINVAR:224841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 054824ce-28d0-4c9b-a738-2b162f34e1d2 CLINVAR:578174 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen def327f2-0b2d-4b6d-b59a-6dbbfa1d81a8 CLINVAR:578174 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41168c05-4a74-44ae-adc7-0b8963051075 CLINVAR:2187538 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb800d04-e8ed-4f3e-985b-ee3a1e32b98c CLINVAR:2187538 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 748e1256-68d4-4c70-862c-905055e9bf25 CLINVAR:14841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 646a2662-830a-4fa6-87ed-de0fec024ddd CLINVAR:14841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59714b59-2b2f-4eca-95ac-408429ebfd26 CLINVAR:1034220 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8cbcb8fc-6b2e-4366-b870-2939e6b449e1 CLINVAR:1034220 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be18268-c0d2-410c-8030-901ebb35b925 CLINVAR:304491 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7cc0762c-700e-4a5d-b381-fb4017065e50 CLINVAR:304491 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca703315-19eb-4079-aa8d-6d756827cf64 CLINVAR:285045 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcbb6c67-8677-492f-b711-2f8bea43992d CLINVAR:285045 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3d29c0a-794f-44d4-9dc0-dc0c8f01e3d3 CLINVAR:372487 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c14c830-fa27-478c-8765-5d16ee35d9af CLINVAR:372487 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7be8435c-641c-467d-a87b-ffb2fe101673 CLINVAR:626157 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1e4657b-d617-49b3-b357-ef808915d251 CLINVAR:626157 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bb38dbc-4a27-4e84-8186-cb65914bcaab CLINVAR:235411 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1d930fe-5aaf-4467-a382-2c3cda1558a7 CLINVAR:235411 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fdf7920-7931-4e34-9a45-b434d2975e1d CLINVAR:68681 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f750fbda-aecf-4ecd-a440-49f53a41deeb CLINVAR:68681 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b6e80ae-0a69-4fbc-8a29-6400b2a41561 CLINVAR:496630 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69972908-a2a1-4c4e-9a59-4557b7d8f996 CLINVAR:496630 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76fa1504-6c5e-4389-bd92-b8d0c8a4572c CLINVAR:13133 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3620a49-c2b5-4b91-ad00-09dad16fdcef CLINVAR:13133 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0e47aba-9f6d-4703-86cf-75dff9e2d50a CLINVAR:1075544 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5b1522a-ed55-4c86-a908-af5ee5ca0de3 CLINVAR:1075544 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01bc9c99-6526-41d3-a60b-bc2c8b643c38 CLINVAR:13130 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca5dc2f6-6c8a-4707-bbc7-0b882d511398 CLINVAR:13130 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 545c2eda-9c97-492e-b8bc-cf76d24d1a34 CLINVAR:500475 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8519ff63-4e5c-466c-901d-d210d6dddc28 CLINVAR:500475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecb0ee71-4667-4881-91ed-6c3e541a35eb CLINVAR:36719 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f7415183-082f-4458-87f3-8fe197ec6f01 CLINVAR:36719 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f12aaac-c0d4-44e4-bb6a-41fcb5439039 CLINVAR:1412375 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f21d0939-87e0-4cd1-9d2e-d1b1b3a494fd CLINVAR:1412375 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e89c50d6-0ff7-4186-b3b4-14f95c5ee0c7 CLINVAR:13138 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe16777b-abf3-458b-9485-79dc1aa91141 CLINVAR:13138 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0676adc-fac9-4ce7-b601-c7b3ad4ab418 CLINVAR:427020 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa61f200-d27a-449d-86e7-9a83d6eac5cc CLINVAR:427020 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f33762c-afde-44ee-9e3f-6e6335d8a4e2 CLINVAR:624608 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3a51312-35cf-4be5-bffc-e3e2fee07d24 CLINVAR:624608 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 410702da-2b9a-44bb-b593-3107fa893cc6 CLINVAR:36415 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bb258ea-21f7-4a1c-9263-d6f1c483c227 CLINVAR:36415 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 480b6167-9748-4b41-be58-818a2b1a2af8 CLINVAR:891294 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 158a66b2-003d-48a6-885b-ef1ffec0af1a CLINVAR:891294 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb8c0972-bbc0-46c8-93fe-1867d37e75f6 CLINVAR:81020 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7c91ea2-6d84-46e4-afef-451b8dc01026 CLINVAR:81020 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cdbac11-86a1-49cc-97d0-1ab54b9d50a2 CLINVAR:36423 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 532e6d89-17e7-43d3-b75f-fe244c02f1b7 CLINVAR:36423 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4001cb05-bdc6-4c4e-910b-cf2f40579c0a CLINVAR:644288 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc2b88dc-7457-4f23-9d4b-c1e0f8488354 CLINVAR:644288 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a129aa6c-d927-432c-be4d-3ff824406730 CLINVAR:1999662 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9542f60-e16f-42d8-a8df-c9b0d6d2cd76 CLINVAR:1999662 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ff91d4-d33c-4f1d-9351-d6bace836e5f CLINVAR:2048620 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66494721-3b7e-4b4f-9a0a-a81f8d93cd35 CLINVAR:2048620 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dca5475-2212-4188-aec9-a83c0666adc3 CLINVAR:2054022 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c777c894-10d0-46b2-84f8-dea4863c0e05 CLINVAR:2054022 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53088152-0ff0-4444-aba1-6faa93a24ba9 CLINVAR:962267 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0d7862a-de0c-495e-905a-0b95bca9c79e CLINVAR:962267 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19615d50-a538-4fe1-b7b8-0732d5eaf061 CLINVAR:372386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fab1a605-d214-461c-bf84-ed63e5d98fc3 CLINVAR:372386 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d89ea0d-6667-40e4-a837-97c451549423 CLINVAR:280035 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8120fe8c-30be-4ca1-a7e8-c0c44a346b96 CLINVAR:280035 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac81578a-4315-497a-93c0-af9f66069c4b CLINVAR:225195 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eca91efc-623c-4c9a-bf63-d13ab224d3d3 CLINVAR:225195 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fa9a98a-3ebf-4b00-aca2-d19ecea63836 CLINVAR:10027 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b4462f7-8d28-44a8-887c-d8386aa21bd2 CLINVAR:10027 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98c37ade-db01-46c8-94ad-079d6f7b38ad CLINVAR:837417 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 610839b5-90e3-4783-9373-8da38d0443c7 CLINVAR:837417 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a72168da-8def-41ae-bd63-384cb6a6ebde CLINVAR:532191 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1140e4d7-0c07-430b-a5bd-0f21d4b686d7 CLINVAR:532191 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b596b66-421a-4249-baf1-22a063a65c78 CLINVAR:1559662 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ffe6830-d5d6-43af-8523-0261c33e59ab CLINVAR:1559662 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c551517-2401-46b7-ad28-2341da16e31d CLINVAR:1368945 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a86a3a42-25a8-4a69-8cf6-1226a7a50858 CLINVAR:1368945 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae208279-3011-42ba-ac98-f233298b88fe CLINVAR:633274 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd15ae92-d97c-4c1a-8087-c4f9b42f645c CLINVAR:633274 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a05004e6-97cb-4565-9883-83f1662c9576 CLINVAR:690455 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bacd53f0-c727-416b-9a02-b4b7ec6ac90c CLINVAR:690455 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a90ac710-98f1-4e8a-afe1-fa2320b12601 CLINVAR:932987 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb30b152-efe7-4ab2-af7e-8a4addc88079 CLINVAR:932987 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57e4da25-fd8f-486b-85fb-4e4b680a6747 CLINVAR:825366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43d4f0c7-c8ff-4221-8fd8-e57bf4ad1ef6 CLINVAR:825366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2c629f5-069e-4a6d-8adc-f308139dc4de CLINVAR:477225 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61bacd00-c29c-4588-a88d-4f9b275ae0a0 CLINVAR:477225 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2fbe7b8-a5ab-4eba-98ea-30b2f1cc21b5 CLINVAR:825165 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcbdd73d-acbc-4b6d-8bd1-0452774b28b4 CLINVAR:825165 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2d770a6-5ea6-47d1-b1ec-c11197762b9a CLINVAR:939082 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5aa60b73-7851-42da-b771-f4d02d5fcb8c CLINVAR:939082 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c15c4666-9a83-4da7-be5c-3453d101ab45 CLINVAR:933119 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98707584-ed4f-42dc-a33b-87b321a916bc CLINVAR:933119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbcab507-0a2c-420c-b951-46d1885f551f CLINVAR:30566 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb06e947-68ab-43f4-b8d3-4ccc9af8bed5 CLINVAR:30566 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceb85a0a-74d4-4b17-8b63-fb8df19c7b0a CLINVAR:36212 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0099a969-37d5-44da-a819-e4874a02e909 CLINVAR:36212 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28c0930d-56e5-4ec8-8632-f7bb9ce1ce05 CAID:CA367402683 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a65430c-70b0-417c-91d3-d8892ec4df8d CAID:CA367402683 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 457aa1d0-75f0-4ac4-bc90-82f3a8db9221 CLINVAR:447411 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 585c9df0-ec4b-4a6a-95a2-3e46d525ce66 CLINVAR:447411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b989b9f2-2f79-462f-b4ed-00f7957c0a98 CLINVAR:804852 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4705addd-bad5-41ef-94c3-9a46b6fbf929 CLINVAR:804852 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c721eca-0892-4e6b-bc65-51889d823b08 CAID:CA367401193 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2700473-1634-4df3-b031-9d1bfd87524c CAID:CA367401193 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e2bbc4b-79e5-429d-a2d0-3a3dd8e1842b CLINVAR:1807279 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ce210cc-6a5c-4896-b600-9da9d14451e4 CLINVAR:1807279 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8746332-1f33-476c-9c2f-1fed15776b44 CLINVAR:995373 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53ef6552-dcfb-494a-ba85-2298e6ae53a4 CLINVAR:995373 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9ff1f23-1ef7-4e10-87a4-786abad118e6 CAID:CA367397094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f0c768a-7268-484c-9377-4f0abece5999 CAID:CA367397094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d12a5cf-9fbb-4472-8187-bbd02ab295be CLINVAR:447381 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11b8f8dc-e057-4ce1-b3d9-007551dbfb7f CLINVAR:447381 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f80be13-b01d-41e2-945c-db89fdc362e1 CLINVAR:36174 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdc2887c-a43d-4e25-b9f9-ea9fa1680d3e CLINVAR:36174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e6b4ad0-7034-460e-8d63-df2a3c977c0d CLINVAR:418228 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e771f740-9310-4292-b0df-a4935a001b3d CLINVAR:418228 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77aebc6-804b-420f-bd5a-d4c0e1ee4048 CLINVAR:2691825 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7cae9e8-e853-4c71-a7f9-5efd5644c770 CLINVAR:2691825 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 393ad215-29c8-474c-a432-42a8e3542bd5 CAID:CA367401296 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff934881-d895-41ea-9e1f-958f2cbe8f79 CAID:CA367401296 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df2bb9c7-0817-4f6c-a913-700f09e12b0c CAID:CA367401320 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00cfc377-c4e9-47d2-a8c3-08dce6c37689 CAID:CA367401320 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c17438cc-f2f9-48e6-9c6b-ac8b13fa64f7 CAID:CA367401688 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fc89503-fa6d-4978-b589-cbc1acf22ac2 CAID:CA367401688 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c1a32ac-9c4d-44c1-bd92-90b4c241bcef CAID:CA9870415 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 801c69ee-a2ea-4d99-8efa-ef796acb23f4 CAID:CA9870415 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0911293e-1635-4698-81da-0b7ee91ce646 CAID:CA409108291 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31ce91f7-0a8e-462d-99a9-cadc739a7012 CAID:CA409108291 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2151593a-e307-43dd-96d3-cc86e4b5057a CLINVAR:36346 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0dba642f-3dfd-40de-89f1-455e4cf46544 CLINVAR:36346 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9afd25c-ee70-44d5-af98-0d396a9284ff CLINVAR:1299754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1f7152d-a205-4a42-9c52-17d86beb2aaf CLINVAR:1299754 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13cb039c-041a-4bff-984b-86ca68e56783 CLINVAR:447521 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 595bbcac-7da7-4bed-ad49-9e3a588eb4c8 CLINVAR:447521 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb4d78ed-52c0-4f10-b6e1-68387f4067de CAID:CA386964742 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fdf9df7c-158e-40b4-9654-cb88373b7343 CAID:CA386964742 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78070d6f-b894-4ca9-9b85-9e3079762de1 CAID:CA386964799 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc8c22e2-6583-4e93-8716-1ba2e333064a CAID:CA386964799 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4791ec7-d62d-4e77-8530-178f7ca20989 CAID:CA2580611076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10965fd6-5c6e-442f-adbf-4eb4a85da524 CAID:CA2580611076 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c43c51df-6fc9-4345-a578-2db23b269d9f CAID:CA386965032 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60f284c8-e6f4-4b55-94af-cf1f301eaa5d CAID:CA386965032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1068fe5-7f64-4367-a8f1-c116ac2221fe CAID:CA2580611120 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd86be4f-d4c5-4023-b73b-e243412b36f3 CAID:CA2580611120 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3ef6841-6dab-4117-b35c-33551d49862d CAID:CA2580611121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7772d24-506b-49ec-80d9-e6caa10f0eda CAID:CA2580611121 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14f512a3-c964-472c-b7be-31f209b9aa0f CLINVAR:2691846 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96a2ee0f-45ab-4f40-8173-9355c3a31aea CLINVAR:2691846 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ddcb31e-ede2-42bc-94ee-eb8e12ffb7d7 CAID:CA386960641 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fea78ee1-9e4c-4ac5-9f08-ce2979e25d35 CAID:CA386960641 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6831e702-04c1-4337-832e-9016475d88d3 CAID:CA386960737 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19632fe4-735e-4e8a-afe2-2c79203e357d CAID:CA386960737 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea8f932-27c9-41c4-b378-6ccf4f8d41dd CLINVAR:897015 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 492c1a19-7384-428c-8645-fa67bbab83f3 CLINVAR:897015 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d36854c4-a627-46e1-98bb-c02a5d020f9d CLINVAR:2088001 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6370e38b-b52c-45b8-9aa2-e046434b9503 CLINVAR:2088001 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cf4249a-9c56-4481-b9a9-91c6d7ca0f40 CLINVAR:558340 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c25fdf6-1e97-4847-85bc-c0429e5e69cb CLINVAR:558340 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a50477ee-aa54-4637-9099-ee7a6c73b1d0 CLINVAR:1505857 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2686c26d-8e6d-4857-bae4-0d1705274556 CLINVAR:1505857 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dcaf07c-b947-48cc-b060-49d0407976d9 CLINVAR:402341 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46b2f8a6-a5ff-4144-9ffc-97a97e42f23d CLINVAR:402341 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb5eb1a-9a94-492c-9713-c9134b8c4195 CLINVAR:1722324 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f82ab86a-e76d-449c-a7a4-30987ae439c2 CLINVAR:1722324 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cee54287-697d-4890-8ad0-7b4e5eb5b2b7 CLINVAR:2118854 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 442c480d-5cc0-4e6d-ad99-f58c96577bf3 CLINVAR:2118854 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b2305b9-c684-4fdc-9168-5093b91ff7f1 CLINVAR:2288152 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3a88054-0c28-4a1f-942d-3a8ffed13234 CLINVAR:2288152 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fd4b52d-b1e5-4a48-8749-d2163fe12c75 CLINVAR:2163795 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3eb02edb-ae32-417d-bd22-d9b4c7552aab CLINVAR:2163795 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 449b5fdf-65fb-4ebe-b786-57d98385a66d CLINVAR:969751 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a58a925-4806-4280-a3fc-5be5f6740acb CLINVAR:969751 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a23779-8d1b-492b-9272-f498dd718ab5 CLINVAR:4665 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c8cebdd-c1cb-4bb9-9c66-ede2694c95c9 CLINVAR:4665 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d04860-804e-4be5-b163-1436ff63703c CLINVAR:802564 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17d72f5f-e6e8-429f-a2e7-a81d681c9e8d CLINVAR:802564 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 382d6594-e7f6-4b97-a78c-e34c46a1b50f CLINVAR:1364174 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da8d10d1-8d1f-4c6c-a281-41028f8c2dec CLINVAR:1364174 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b7297e-a2c8-4430-8a3a-2106f5dbb4bf CLINVAR:4674 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30993cb8-6ed3-4234-97b4-c5c5fcb5d126 CLINVAR:4674 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b0495cc-b37b-4a35-92bc-c2f043aad923 CLINVAR:2136852 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed30e6ab-9e6b-4a11-adf1-4c3c896e2628 CLINVAR:2136852 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4afd09c1-9221-4cb8-9ad5-60f65a767502 CLINVAR:1438811 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1019c588-e0e6-4964-a3b4-39c29bdcd615 CLINVAR:1438811 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d5641c2-390a-4730-9cd0-23bbabc90d37 CLINVAR:2136853 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0b91156-4371-43a3-b267-22775172de14 CLINVAR:2136853 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20c79f26-99d4-4f38-85db-999f2e73970b CLINVAR:2107279 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 627bb3b5-67f0-4bba-bd45-68bac1ae07b0 CLINVAR:2107279 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60e1f115-28b7-4952-a3fe-356bfeb73a82 CLINVAR:841042 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d631f87-2b89-4a45-a6b6-38d3936c4365 CLINVAR:841042 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0100d89-2a2c-45ea-b7bd-2b54e8e23c76 CLINVAR:4677 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 703dca45-4c6b-4a07-b681-4b0c469a528f CLINVAR:4677 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b491f7-822b-400e-9791-51d132807ac2 CLINVAR:381576 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98e3ca68-aead-4650-84ef-c4a64c4fa0bd CLINVAR:381576 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3220b05-64b2-49a4-b7b9-c515a6cf1759 CLINVAR:496633 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e2ab8a6-7323-4332-a839-f8b3aefd6897 CLINVAR:496633 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c2e6ee2-bd06-4aaf-9f77-33fcb5a86ff2 CLINVAR:650904 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b5932f4-a552-48d3-b2cd-fc30795ec2bf CLINVAR:650904 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d911eb6-8bd2-4156-b642-427b86b7fa73 CLINVAR:496629 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8b2212c9-fec7-471f-b8ca-47e57c42ffc4 CLINVAR:496629 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0bf34fe-ecf5-4d6f-9f88-7d8f1ae38aaf CLINVAR:549915 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9aa935ee-dc77-4058-a31e-859bd98fb81b CLINVAR:549915 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 254d0efe-62f6-4c3f-ad38-105df951112c CLINVAR:304492 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9673374d-135b-49db-a931-ee45c292260f CLINVAR:304492 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7656569b-081f-46ae-9cb1-d142b63958e2 CLINVAR:555182 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a061c2e-13d4-44a1-9832-ba95aa9fd1f6 CLINVAR:555182 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c713c466-3334-4606-b127-4296ddb7eb8a CLINVAR:36393 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6409e849-3908-4646-aeee-83f17ff22d99 CLINVAR:36393 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 933bc077-9363-42df-b0e6-6448baf80bef CLINVAR:14843 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fccea38-6804-4072-8394-7536726cb0d9 CLINVAR:14843 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3291678f-656e-48f0-aa1c-629f27bb9e0c CLINVAR:1968 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 991c5e2c-1e30-4ab8-b898-c99bbdc13a98 CLINVAR:1968 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c368306c-d399-433b-965a-a64bd8ee60c1 CLINVAR:529744 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfde9375-481c-4924-9aea-4fa188b95fcf CLINVAR:529744 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20343386-1527-4dac-bd06-925c629076cb CAID:CA343774510 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3bd0463-d8f7-4396-8835-2e2e1fefc07e CAID:CA343774510 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8350d769-8ae0-4729-9320-dd57c1e99cd1 CLINVAR:660852 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffd31493-04eb-4b7d-9122-47901dd1fed5 CLINVAR:660852 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0495249-c868-4432-989a-6cb87f68e96a CLINVAR:694627 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e86655d8-a52a-4ddc-a8fb-c761023d31f3 CLINVAR:694627 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 168234e1-e981-46da-91c1-0926cf10ec0f CAID:CA2573051124 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f36774c8-dcf8-43fd-befb-ab386df9a187 CAID:CA2573051124 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9ad594e-b340-4412-b554-06e64769b317 CLINVAR:18017 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0ec2490-4224-4fec-881d-5202b1344555 CLINVAR:18017 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc452145-171f-4032-8251-f3494ba876da CAID:CA421942771 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dbfabe8-d95c-41ae-a934-7c6bb09aeaa4 CAID:CA421942771 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81053908-1b46-4682-9a96-42ec6c0c4d80 CAID:CA2580612102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8334ea28-fb2e-4361-8841-da2566323429 CAID:CA2580612102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b16d82a-0fa3-492a-839f-81224149e769 CLINVAR:585914 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 820ad321-17c1-4e23-a691-d45153dd87d4 CLINVAR:585914 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b8c3da2-72fa-4771-bedd-ab317bda3b8a CLINVAR:36172 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aba295c4-a3db-439f-9498-30cf6233f508 CLINVAR:36172 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aba01db-2900-46b3-a681-ec892a45bf31 CLINVAR:2691837 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b619aa3-f7ee-4ffb-8683-c4b526a9d310 CLINVAR:2691837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bc3ab96-f8a4-4fc8-bfa0-cf879a18664d CAID:CA386958785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 402072f5-5357-44f8-866c-700fedf35265 CAID:CA386958785 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed12e179-a783-4c4e-bc6b-c8b2b9af8302 CLINVAR:1384058 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98e78e75-215d-449e-b1ea-d94f4e903eec CLINVAR:1384058 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e2f7a3-e8bb-4e50-9b8a-a414299b4e43 CLINVAR:1298987 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c390fa1d-a947-4cd0-b4ed-dbc9b4737fc6 CLINVAR:1298987 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f347d0a2-04d3-4293-9c73-579ce8e48be5 CLINVAR:642787 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe2c872e-4abc-49ee-a0b7-5391939cb87d CLINVAR:642787 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d1b75f4-8d72-4a6a-bfa5-20e6dc6c57f7 CLINVAR:1323115 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 738f93ad-ab20-4aaf-a529-fc20c3e95e23 CLINVAR:1323115 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4421f5f2-4f63-4988-8429-82a618b855be CLINVAR:1028611 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7f08d6f-c7e4-4f57-9c37-b1fc5c00c7f0 CLINVAR:1028611 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec239165-0d53-4c36-b362-5c131150dc64 CLINVAR:596673 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc324dd2-794b-4eb8-bded-34b23f6b9742 CLINVAR:596673 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 529a63c9-14e3-41c4-a84c-bb4e148bebd7 CLINVAR:866507 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d7cdec0-5afa-4ae5-8b18-c53ac0abc8ac CLINVAR:866507 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8bb5942-5b5d-448e-ae03-f1885b750b63 CLINVAR:29873 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b71e107-a4c8-4caf-9707-7d6189dd1319 CLINVAR:29873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d01e2da-ce72-41eb-a2bc-9586078e143f CLINVAR:98846 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df9c80ab-8f91-4a3b-9376-d31baa19a3ed CLINVAR:98846 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2f2a693-95b7-41ea-8737-9f55deb4b7fc CLINVAR:98848 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8761bec7-4c79-4274-bc08-f5f4cfe7fb8e CLINVAR:98848 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff6234d9-9d67-48ef-9979-57629164d9ca CLINVAR:1369885 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 696f6a9c-6e18-4d2e-aeda-d6347404c337 CLINVAR:1369885 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed0feeb6-62f4-4439-b9f3-8cfe5524a134 CLINVAR:379561 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8be500b5-3c3c-4431-91f2-a0e9c84eba99 CLINVAR:379561 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdc38f0d-cf67-46c8-9350-b5e2d2697912 CLINVAR:98835 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 30459106-6063-4515-8131-370b253877c5 CLINVAR:98835 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31c40989-75e9-46a6-9483-df5817b5183c CLINVAR:973955 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65695e72-ba31-4210-a2f7-42a80614ac17 CLINVAR:973955 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba1848aa-b197-41e7-9b12-b36ca1e085af CLINVAR:964193 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc4ccb79-53d3-4e09-9a57-87721258566d CLINVAR:964193 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1da42694-dbcb-4225-b836-95d6e889aa49 CLINVAR:467827 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ffff6c2-f0c4-4044-8f49-2bc1e15034b3 CLINVAR:467827 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67941abc-769c-4956-b144-f4ab1f60a3a5 CLINVAR:1213912 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49370bd9-ff53-4dec-bd84-8a05e1e9712a CLINVAR:1213912 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b027563e-93c6-4399-927e-f7322445f919 CLINVAR:10019 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23187c34-00ec-4957-83b9-95288ad3f086 CLINVAR:10019 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b421799-3ab5-4770-81f3-85144f32c0f8 CLINVAR:941327 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4caf09cb-7bbf-42e5-983e-f7c5822ce1b3 CLINVAR:941327 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ac6cf2-575f-44b4-9bf1-c8f4fac98b81 CLINVAR:1339483 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a039f09a-1ed1-4f68-9160-124909ff393e CLINVAR:1339483 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5322b47c-72a8-4dbc-8e06-14e3a40996fc CLINVAR:429640 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 177aa5cd-31f4-45ff-985f-40edaa3a473d CLINVAR:429640 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cde6ccb-9f01-4f33-850e-38d7bfc0305b CLINVAR:36169 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cc28beb-3b4c-489f-8003-3b9505267d2b CLINVAR:36169 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69ba5520-58ae-419b-9e45-e958d732de97 CAID:CA367400637 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7b7e62c-37a5-4325-acc7-32fd43fd3cf2 CAID:CA367400637 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d4f63db-e3f7-440c-82f9-a06c41e93777 CLINVAR:2691831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a672432-fb45-4a5d-9b7f-b2cfd503bfaf CLINVAR:2691831 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22d45c43-af43-472b-aed8-60750381aa07 CAID:CA367401125 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8bc8765-ff00-4637-8a6b-9c49c4e42a81 CAID:CA367401125 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06142889-307b-4505-8d8d-d8712b366a54 CAID:CA367403546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e361b8dd-b1bb-4743-ab3c-cf8ce2425edb CAID:CA367403546 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c075782a-e9d8-43c2-a3d4-aef63cfa8150 CLINVAR:1335461 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f424fddf-3422-4c6f-84a0-c1a6feb2dac0 CLINVAR:1335461 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 548edfe8-f435-4b50-8ab0-ee7b2849b09c CLINVAR:456438 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67bc4e94-324d-4312-8d4e-a2e8d99063f7 CLINVAR:456438 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8457b196-df3c-40b1-b266-33b6fe741067 CLINVAR:526525 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63d5a233-d42d-42f6-aa57-38d9bf5ad630 CLINVAR:526525 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb0e732f-9f10-4e97-899c-26d7e3798c60 CLINVAR:439746 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f321dcd0-c039-4975-9eb6-f6585267c4b6 CLINVAR:439746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a70e3cce-96ab-41fd-b3a7-638653c1b2dc CLINVAR:282242 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0272c525-10c1-405c-a051-f8c1692ab516 CLINVAR:282242 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63adcdb5-0308-4a5f-b67c-1a1742c3a16a CLINVAR:284232 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9da3326c-16e0-49ed-a348-be50c02dc01b CLINVAR:284232 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 854ce6bd-b69e-4887-8b63-022fb9f828e9 CLINVAR:465141 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffd0eae3-faff-4c77-83e1-4376cbc347a2 CLINVAR:465141 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 040d8a50-b2b3-4818-bac7-eaaf47c90d01 CLINVAR:533700 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0dcf77cf-e341-4d71-92d7-becc86e61997 CLINVAR:533700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a8c6d15-30c7-4c5a-ac05-25763fb82c32 CLINVAR:2683736 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 098fa52a-9a81-4ce6-b790-1b7507b8a4ab CLINVAR:2683736 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65586c0c-5093-44b9-b6df-23c70aafaf5e CAID:CA645287926 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f23e409-a316-4cef-a7f2-5352f22b00e6 CAID:CA645287926 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9c64aa0-44cc-4527-a944-5d5698a75d5b CLINVAR:2031214 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f45d4c6-f391-4dc3-86ed-b53f51b09831 CLINVAR:2031214 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3236e72c-bce4-44cf-916b-27ee712c5ee3 CAID:CA415084839 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2a7a666-9135-47e7-9b90-e20b5bbc45a1 CAID:CA415084839 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b2aa1e-d6ff-4f39-9cfe-9840a7aa9058 CAID:CA415078334 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f33e407a-ef61-4c09-b506-9631bdb327e0 CAID:CA415078334 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1205699f-dd63-41db-82d9-fb24271afead CLINVAR:917495 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9702cdf6-026c-47e0-8a81-9cc49cd1bdc6 CLINVAR:917495 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e710d0fc-cd68-417c-92a7-50617edc0e58 CLINVAR:917496 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a4f746c-d500-41cc-b04d-7d3d201a30b0 CLINVAR:917496 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18ad38ff-7bd1-4044-9c41-c06f45a40f3e CLINVAR:36712 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8f725ee-0806-4ea9-9496-187d446f6303 CLINVAR:36712 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0929a0d6-9da4-4ac5-ad4b-f7b471821e1e CLINVAR:583401 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63142af4-b46b-4838-afeb-c31b77da57cf CLINVAR:583401 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02942773-2d96-42af-ba9c-2754def415e6 CLINVAR:231277 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4180c679-8000-4f33-8afa-c4415820072d CLINVAR:231277 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a7a9abf-6760-4367-8a65-5e389d6d580f CLINVAR:135775 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abfe73bf-e74d-4d2d-8518-8accdca7071b CLINVAR:135775 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1fde438-fb22-4800-8c01-f4a8be2075da CLINVAR:181996 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2545a4a0-828d-4f6f-ba7d-ab43585dec54 CLINVAR:181996 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71f932d5-de18-43ff-85b9-b4798baa1a83 CLINVAR:407515 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bd4dcbb-a98b-4994-88d8-ffe5030fdb49 CLINVAR:407515 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55a252bc-9945-4e1a-a6a6-7ccb2562a8e5 CLINVAR:407510 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 380acbce-6905-4a7b-afb2-4816864c67df CLINVAR:407510 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2272d2cb-6624-4ec3-8a23-6828c31834dd CLINVAR:229794 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 554d024a-b966-4ddb-8fb8-4075054732a1 CLINVAR:229794 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22aab64f-45b0-479b-9b55-08cfaac1dd94 CLINVAR:127459 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f75b8878-6361-44d0-b7cd-72aac25a0d0a CLINVAR:127459 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38141e28-e87f-4ebd-a829-cd6db2f623b9 CLINVAR:2921289 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08de4453-45fa-4b06-89c3-00df9ccd06cd CLINVAR:2921289 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49e94517-af7a-47c3-bffe-5a1d518884a7 CLINVAR:569567 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bfff6f7-0c52-4d12-9754-9c148a8a8d50 CLINVAR:569567 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce9eadde-5cc0-4095-8871-67432b80a52a CLINVAR:1713223 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1206505-e58f-4c11-b4ac-281f36449c3a CLINVAR:1713223 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 711e73a7-8d3d-43b2-b78c-2ed19693c311 CLINVAR:2921288 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5c91cf3-b9f2-49f2-be9a-def5262f1928 CLINVAR:2921288 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 792dfca2-2482-4ddb-a644-294837f8fdfb CLINVAR:220121 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89978417-34c8-450a-8e8b-ff827162717d CLINVAR:220121 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf4ec06c-1875-4666-95c3-31293f4156e1 CLINVAR:265634 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7889b1e-66ce-4e49-90bc-e564501cc8d7 CLINVAR:265634 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f7f7ae6-cbd1-4a20-b3ce-8c88c7bf11bb CLINVAR:127405 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7c3c019-45f6-4a75-a711-ece5d34be775 CLINVAR:127405 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29eb2427-ce07-4979-ba17-c7201d8b2a24 CLINVAR:141887 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94a2ebde-dd52-4e9e-828a-c2a372f17707 CLINVAR:141887 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a69b9a6b-8c12-442e-a47b-f35eddf14159 CLINVAR:141474 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20636cec-200d-4d84-a3b7-4caa58b13bbd CLINVAR:141474 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fb44eed-f150-4877-8257-55da597543f1 CLINVAR:141742 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3229975f-6a47-4a4e-8c5b-fe27185d1cb4 CLINVAR:141742 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 414facf1-7371-487a-872e-1d9bde8f7616 CLINVAR:216021 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86ef73a3-e0f2-4f21-a2f9-667f3542d1ef CLINVAR:216021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fd8787a-9937-4003-b9c6-7437be37a7ce CLINVAR:556315 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e1facc8-7307-4154-a4a3-3f328a0febca CLINVAR:556315 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 933bab92-64b7-4f4f-97df-accd7a6d8abc CLINVAR:127463 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50545846-483f-4659-a96c-c8ae14cee068 CLINVAR:127463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37a05fbc-b6e1-466b-931e-9dcdef351550 CLINVAR:989764 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2634e191-6256-45b0-aa04-fa20e35d1c8b CLINVAR:989764 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4385286d-7e31-4c9c-bfcf-e9d49ff8c1d0 CLINVAR:1515797 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f7f7c36-7933-4eaa-beba-d296696fc1c1 CLINVAR:1515797 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66a08adc-8a6b-42f9-b54a-f74e143633dd CLINVAR:1057857 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c95d532e-195a-4afb-b8dd-5563fb7a7769 CLINVAR:1057857 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a3b0b7b-66be-40f3-91cc-efc1656a0105 CLINVAR:522770 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7104b5f5-5f01-48eb-a026-f51d3c839bec CLINVAR:522770 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78a1461a-fcbd-4a0d-9206-09f01e213a90 CLINVAR:1015913 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf537b3a-bd2b-4d84-9903-8a9042c9917a CLINVAR:1015913 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b228c7f-32fd-4f7d-aabf-6374817da87c CLINVAR:847561 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27c3383c-944e-4b43-ab15-51172b7b2c08 CLINVAR:847561 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9653b27b-813b-48c5-96c3-48e5f37f89ff CLINVAR:2440718 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 535a5cd2-7439-4924-9d89-2b26981beb4b CLINVAR:2440718 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 132e7c53-3f79-4d33-9698-12139073eb4c CLINVAR:877154 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6ed2ac9-92da-465d-929f-d4441f8452e6 CLINVAR:877154 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7be86ee-e501-4106-8688-53549b32714b CLINVAR:1438768 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdefcd71-d5a6-49df-90c5-5da83e51460d CLINVAR:1438768 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dce592d-247e-4e6a-9ad0-5535f45396e0 CLINVAR:968725 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18bf7b6f-e8c8-46b0-99ca-b46953b56c67 CLINVAR:968725 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe2d0964-0a38-483c-a420-532d928c49b8 CLINVAR:2199693 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4220cdac-9012-48d9-87e8-ea56904450e3 CLINVAR:2199693 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d206d0d1-714e-49a5-9daf-84c809bcb64d CLINVAR:633185 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 725a2f13-1bec-4e42-ae86-0fc1afdaaa00 CLINVAR:633185 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bae6a7c2-067b-4542-896b-a5181a3824fd CLINVAR:1515264 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14ae0927-9a00-4d4d-96e9-d359b72c2919 CLINVAR:1515264 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0d40bd1-b2ec-443c-aa9c-7240b6bd20b7 CLINVAR:655337 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dd2c508-07a0-4dfa-83ad-431f5e7278c2 CLINVAR:655337 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f09e96eb-cc03-4ef7-9d87-99e8ef058440 CLINVAR:1434035 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8f5657c-cbc4-44b0-bcff-c879194e5bfd CLINVAR:1434035 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 457959af-34e3-4497-ab2f-e2ca6386a08a CLINVAR:536367 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ea21597-590e-4b23-bf6d-8396ddff2d7f CLINVAR:536367 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc3e2b81-fb67-49ab-9684-3b342f555c74 CLINVAR:648095 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a48496a1-d2a2-4231-b1fc-e49389c73b1a CLINVAR:648095 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8b2f59-99cd-4d01-bc4c-7358419eac3f CAID:CA1139771319 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e843dd46-1e6b-41de-9411-48133ab519fd CAID:CA1139771319 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23a941c6-0ffd-490d-929b-e57fc695afcb CLINVAR:281715 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da3b955f-bab2-4ef4-bbf3-f4bbee3eb1d4 CLINVAR:281715 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ab3f99c-8493-46d0-96a2-c10de0d1d8d0 CLINVAR:98889 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48133a43-0436-4d43-b102-ac1099e01a93 CLINVAR:98889 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97447ae0-bc7f-4559-a70a-094dfa8c3fd9 CLINVAR:1069898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3304359f-6f05-4a2e-be48-366015a465c3 CLINVAR:1069898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fddf2e4-b5ab-4ffd-978c-1226a3626c14 CLINVAR:98888 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88587c99-413d-466d-a7d2-27b19b3f7acf CLINVAR:98888 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 747b8b5b-e206-409c-b476-5f1c72c13793 CLINVAR:658837 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 843e5daf-1064-46e4-92a8-f49fb1c96696 CLINVAR:658837 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b61eb2d0-0bf9-4037-baa5-79d9dabad1a4 CLINVAR:421620 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95135557-7e81-4223-9b35-a77af953ca55 CLINVAR:421620 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2e0bc45-c583-4ea2-93c6-4eb652e88f5d CLINVAR:870342 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 280647d2-af0b-4592-9a41-b702d8404b77 CLINVAR:870342 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1a24469-b106-4946-bf65-c9df2ec10892 CLINVAR:962032 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2c7697f-2445-4dfe-8cd1-a797a804efd7 CLINVAR:962032 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9125e0d5-3c4a-4a50-b2b4-4a281868dd29 CLINVAR:298021 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 436f68a3-9eea-4fde-bf85-253af906a375 CLINVAR:298021 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7dbd468-f7f6-47cd-b718-ec81c3241e74 CLINVAR:876133 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e9f1aa1-83fd-42d9-846e-87df4e2cc695 CLINVAR:876133 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34e8fc3d-981a-4091-a0d8-111a4ecfcf5e CLINVAR:1026379 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29abf3e1-b043-401b-97bc-50a1bace908a CLINVAR:1026379 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc168aed-aa3e-4e97-a48e-8601149fb20e CLINVAR:874234 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen adcf158e-65cb-4c16-8359-fe9a76e597f1 CLINVAR:874234 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d8751f0-da70-4bf3-9319-77f9d4b17ccc CLINVAR:627224 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 440d8e29-663b-4b78-b6ed-1757393f60c9 CLINVAR:627224 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edcc7778-0594-4d6c-9ae7-dabde7c547c3 CLINVAR:1170692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ebddb309-7175-4267-948d-afec0882fbf6 CLINVAR:1170692 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63eec77a-0ff4-406f-8cc8-9792e5c640e9 CLINVAR:529741 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c37d5fe-117a-4cd5-a26d-e9fcbb52357f CLINVAR:529741 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e9f747c-2e0e-4009-a762-2ef6176285ec CLINVAR:18004 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd24d0cd-1539-4898-9841-5b5305f4fd5c CLINVAR:18004 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3e04219-fdc8-4b2e-be38-f8ed0cfdc34b CAID:CA343772379 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 620a2462-7cf6-4f6f-a253-8b93c70d307d CAID:CA343772379 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7833208b-22ec-44b3-98aa-9a792193b65e CAID:CA343772388 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 873de249-0ea6-45b9-959f-d792b62bb859 CAID:CA343772388 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a67ee4af-0957-4fa4-8864-5c5bb6faa7e1 CAID:CA343772391 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 972c5938-515a-4c1d-a053-cb74414753b7 CAID:CA343772391 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 586ab9a7-0507-4d61-9cc5-40a96ba1bab8 CLINVAR:1954374 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 294b8526-19f3-4c74-a8f5-c330ad89fd30 CLINVAR:1954374 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed2abbb-fd74-4e3f-bba3-4924c3b776c0 CLINVAR:36232 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3cf7c1ae-1c0d-48c0-9d86-67eb318eca40 CLINVAR:36232 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82f1003b-c7cc-4b01-96ec-e877cd6e1721 CLINVAR:1213917 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5006f295-09a0-427f-a301-e3769c4572ea CLINVAR:1213917 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1368f107-5a3e-4e4c-9038-e7aa13ba54ce CLINVAR:13118 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91ceddfe-ac8a-43a5-9997-4445499d192b CLINVAR:13118 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e562de0-0320-4752-8ede-19879f43273c CLINVAR:98860 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21dd0c3b-298d-40f2-987b-504a56526325 CLINVAR:98860 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 172596c0-7b40-4384-a3ba-ad9d2ec61487 CLINVAR:98863 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e1fc872-6ce6-4f1a-ab2c-47bb93fc36e0 CLINVAR:98863 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d4b58fe-de2d-4714-95a5-12e096fe22d8 CLINVAR:2110257 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5ad6712-607c-41a5-bf41-4fb621c7b0d3 CLINVAR:2110257 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c38df3-4cde-4757-affb-404f65685427 CLINVAR:372493 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6d150e4-1c42-4677-a127-649839550e2f CLINVAR:372493 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4143afb1-04b6-483c-8d6b-fa859904cb75 CLINVAR:98898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6130c389-d87d-45db-ada5-0ea97767ea62 CLINVAR:98898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9906d6a6-d507-47dd-b3d5-9fc2b976a665 CLINVAR:559521 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9059ecf7-4217-44f9-bd53-f64a2fd28b40 CLINVAR:559521 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 749a151c-4ffd-46dc-acee-c4d0a8342ca4 CLINVAR:427864 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6a3946b-8efd-4277-8050-5026bbd7278a CLINVAR:427864 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bf8ba00-de4f-4669-9d9a-5a6bc173acee CLINVAR:29870 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72c11d8d-6251-484a-8154-fb6094f8ca3f CLINVAR:29870 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5668e092-0aec-497a-8d58-9cce95d8f408 CLINVAR:29872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8402894-c947-4400-afc8-daa8efa831d3 CLINVAR:29872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8484fb14-e4f6-419f-a361-06593d86f695 CLINVAR:374497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46e0eb49-f230-4b20-9881-97ad9352f99f CLINVAR:374497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1a01b51-dd85-4849-ae57-fa530d50bd6f CLINVAR:744318 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b878f353-e9e4-4dc5-9502-834155186a65 CLINVAR:744318 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ac5d813-ee1c-4c1b-a50c-13d122891516 CLINVAR:560497 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 699b76e2-5598-46dd-a379-06b484d9b5cb CLINVAR:560497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 045e34d3-2391-4d5c-89c8-5b7a43970e55 CAID:CA500436058 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85bbdb99-1346-4e44-aa6c-d693fae4c428 CAID:CA500436058 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8522b052-a243-4662-a8fd-90c169be466e CAID:CA500651220 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82d23449-a329-49b3-b366-b16e01d698e8 CAID:CA500651220 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eba7dcc5-039f-4f00-a987-0fc55d7dc20f CAID:CA399791611 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 820a95e5-b3ca-42c4-98ca-97eee3f76dc4 CAID:CA399791611 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 767e4cec-dd22-4e15-a257-0460fd6a63b5 CLINVAR:98826 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ca185a2-3463-4e50-9967-08983ea71a6a CLINVAR:98826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 075c1010-dc8d-4523-a62a-6795bcb1893a CAID:CA399803382 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d62be364-f9ee-4ee8-8398-a370838d68fd CAID:CA399803382 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76114962-1616-42b8-8174-dc2d25e6b7df CLINVAR:3242391 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3cc7ac64-a980-4fd1-a6da-ad04b43ee200 CLINVAR:3242391 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e69334dc-1ef2-423b-a03d-6e83efe3e77c CLINVAR:1677036 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a713b439-a369-41fe-8fa9-0d43fdd9696a CLINVAR:1677036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6849e15b-74ce-46a4-abd2-d7765be23ac2 CAID:CA2497030194 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f51ce8fd-1f8f-4ca0-a8fe-ba61e48e32ae CAID:CA2497030194 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce9b5617-a45e-4cd3-9de1-ec0736c314a0 CAID:CA2579753976 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba13df18-06e8-4b1f-bafd-9fe0b1efadea CAID:CA2579753976 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c9cb3c8-b744-40c3-a12c-8a85dd645ec0 CAID:CA340747756 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72272206-a037-4039-9a10-0eab9a6492d7 CAID:CA340747756 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11b7af38-ac62-4218-be29-790a0750897d CLINVAR:801497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33675431-0541-423e-bc1a-12f49c83bac4 CLINVAR:801497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11c94d58-ee1d-457e-9a73-606e7e47d786 CLINVAR:1117757 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73fd7706-eea3-4261-9ffb-7f74c6a80409 CLINVAR:1117757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc6e1fde-e48d-49c7-bb0e-a9b695a9826a CLINVAR:1468758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3571ef38-8b8f-42a9-8487-1067057ef099 CLINVAR:1468758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3bf261c-4c27-41d3-acec-875c3d2734fe CLINVAR:875116 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 203ab8a5-872c-4cda-9947-a5a06dce897c CLINVAR:875116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f8f6e15-da6e-4ad1-80d0-5f7ce9d94473 CLINVAR:13120 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ebb737bf-b5d4-4836-a44e-9694ec896890 CLINVAR:13120 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c3b1f3-7f38-4d01-9f33-f7d03b8b00bd CLINVAR:1438062 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1246094-708a-4c19-a10e-794aca6c84c7 CLINVAR:1438062 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bda1955-d25d-443d-b254-f1eee76a4f2a CAID:CA2580612187 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad3d977e-b28a-43a2-9fef-df0c6a1f8271 CAID:CA2580612187 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe4edbad-537f-49bc-b287-ba9b9ded95c3 CLINVAR:98857 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f223c894-94ac-45f4-9731-99237d51f7b9 CLINVAR:98857 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d4091c-f6ad-46e6-a29b-e60dda8e77b1 CLINVAR:1030779 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c160a39f-2df3-4eb3-bf57-78f11c3bf3b2 CLINVAR:1030779 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfcb46c4-364a-40f1-ae92-a5a78836550a CLINVAR:1068757 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 843df07c-22fe-44ff-8b15-db728d2d6e92 CLINVAR:1068757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 246240ea-1e69-4c50-bb0e-ea027a71d85c CAID:CA2586966742 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f7ac1b9-88e0-4ee8-804b-4595bc2c641d CAID:CA2586966742 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5216ebd-ee04-44ef-bdc7-13fc44b2273c CLINVAR:870343 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a538f4a-141c-41e1-90d7-4a12b5240b12 CLINVAR:870343 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a4928ed-f87b-4fb2-b870-e4a71f6b3ffc CLINVAR:98866 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 982c166d-32a5-4c4e-925e-ae0d957b7389 CLINVAR:98866 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30dc0938-4124-41c8-8f65-36e6c0c338b0 CAID:CA340745588 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5c5e5f8-19bc-43c3-9cfc-3a1a8af2193a CAID:CA340745588 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b1f44a9-b273-47a5-b69a-396bed9371c5 CLINVAR:488726 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52682a64-6d60-4a6a-945c-f1de5b559b4f CLINVAR:488726 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52348b95-f773-4ed4-9e62-a86bb7202f10 CLINVAR:1901178 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42f79ba6-62ad-420a-9b0f-c1d034325a62 CLINVAR:1901178 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c58177f5-74d9-4506-999a-49b6385ed8cd CLINVAR:984454 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c377ec39-1027-411d-9d74-8673ce38779d CLINVAR:984454 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3458f2b-3236-4a43-8dab-8386da8e6ec2 CLINVAR:933853 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb6406ec-7bb8-4f80-b500-abae40576725 CLINVAR:933853 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28ec3899-e36d-4650-8698-537a8cccbf05 CLINVAR:1459771 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e10abc21-79cb-4a5e-b24b-ae6761557cc5 CLINVAR:1459771 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73c3f73b-c771-4658-8b3f-0ff0ddba405f CLINVAR:863482 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 811e01eb-1d2a-4594-ae83-450ffcaa5d4a CLINVAR:863482 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebf51752-e039-4931-9c46-b9792dc1d2fd CLINVAR:519783 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8428e9e-2538-47b5-b35c-bf2554031ded CLINVAR:519783 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c4b81d-9e8f-4d7a-bec7-29b142aff564 CLINVAR:632819 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d942ebb6-6a2e-4a6d-a5f7-86d7c1ac357d CLINVAR:632819 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffde0925-d00e-49de-bf6e-d16a0b006a8c CLINVAR:495629 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cae449d5-3eef-4ac2-a9d6-533706a2b75f CLINVAR:495629 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03fd9503-81b6-47f0-954b-d0a3f6ee7f32 CLINVAR:42391 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23ac2f21-3a45-4b56-a4ff-e7f18fb619e3 CLINVAR:42391 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 727ba998-0daa-44cd-a571-64ee5d393dc2 CLINVAR:547334 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eaab12de-4939-4fba-9523-b8abafef40d7 CLINVAR:547334 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 628c96c7-03bb-4628-93a3-1f8f5165a115 CLINVAR:570737 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0e14ba3-3b80-4201-83c4-2ef08549fd80 CLINVAR:570737 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63435c39-2789-40fd-ad49-4af43ea57bbb CLINVAR:638559 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f5ab086-c59b-42ef-996d-949ebc0a874e CLINVAR:638559 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c53c2a72-ca3a-4438-b8be-a0b4f7fda803 CLINVAR:263898 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bce050e-af56-4ed0-9ab6-0edee4a49a6f CLINVAR:263898 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69ae39f2-9698-4d3b-817e-e2fab398d335 CLINVAR:200167 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d89ab18-8007-47e8-8137-241fc21cf4b0 CLINVAR:200167 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4a67240-b342-4bcf-8856-9357d726a741 CLINVAR:1746353 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4070167-1209-4d18-b20d-2ce0319d4886 CLINVAR:1746353 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0125eb74-f643-41d6-b738-f4e4c34c596c CLINVAR:1679555 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9d9bf58-65fc-43d9-9465-a6adf4bda1b5 CLINVAR:1679555 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 085b24ac-aaaa-4488-80b6-3d3fcd88001d CLINVAR:21075 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31d5b812-498e-4263-9221-5b77d3e8ef26 CLINVAR:21075 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15b73516-427f-44d3-997f-b0ff5a96ee35 CAID:CA367401686 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 82a4c0b6-7142-45ef-a04b-c1af53fbbe36 CAID:CA367401686 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62bae1af-4f89-43ad-ac2c-2367f7f230e3 CLINVAR:1746350 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c53fbc53-601d-45dd-9214-021116b659ab CLINVAR:1746350 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eda032a6-d71f-4a36-8b48-f5d3fd1afcc1 CLINVAR:198050 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70cc7389-763c-4682-9c0b-ad3ff34264d3 CLINVAR:198050 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f97d2ae-1bf7-4779-9471-d26b9b74e6b6 CAID:CA2580612107 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d272cb10-5211-4c35-976c-a7217b143bcf CAID:CA2580612107 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a224ebe2-5acb-4508-9dff-cffb9950d205 CAID:CA409105441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2ac6241-505c-4346-84bf-deb10bccc454 CAID:CA409105441 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 125d4379-bf17-42d2-bba7-4e9778c84c4a CLINVAR:13136 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d25a88d0-3e94-4bd8-94cd-247d701b1251 CLINVAR:13136 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79e97c28-761c-45a3-9ff1-54db70cbaf8b CLINVAR:418449 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 897d7e7c-de92-4bf5-9237-d4edd2ce4de7 CLINVAR:418449 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48c15831-6e36-476a-af51-f525ce452496 CLINVAR:1050623 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8be066cd-84ce-4da4-bbba-b344ff2136d8 CLINVAR:1050623 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c8de6bf-491f-4c95-8f1e-e464d9932458 CLINVAR:551588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 05c17963-3dd3-4f87-a8ab-1587568289b0 CLINVAR:551588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06b308c1-c222-4457-921a-9e35cea92f19 CLINVAR:941268 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19dfb815-097a-40d7-83d5-cf3e17ebba5b CLINVAR:941268 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d190ff89-07cf-47e0-89f1-2ea170a8be38 CLINVAR:449935 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b54a49b-a6b4-427b-9b46-bc964ca17fb3 CLINVAR:449935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65cfee96-0ad3-40ab-bae1-47ef7c53ad23 CLINVAR:203597 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d01603a-8918-4457-b254-e9573686e8fd CLINVAR:203597 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 195a9db5-7399-4c9a-b8e2-e760cd4c74b1 CLINVAR:617950 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 349fe46e-eca5-41d4-b49e-ed436b9f703a CLINVAR:617950 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b99acf5-a816-4e72-8b20-6cba09de956d CAID:CA367398695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8849b3e5-667b-42e4-98a9-192a6c914ef9 CAID:CA367398695 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d9ae554-6c46-471e-921a-b698b196132b CLINVAR:36182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a70c1d44-5c16-404e-b102-79aeca8b23f7 CLINVAR:36182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 512c2904-c008-4235-8326-511249a55cf3 CLINVAR:36181 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f79403ac-ad99-4693-a819-767169a7b3c6 CLINVAR:36181 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d179866-d4a9-4b5f-ae12-090b2fc6a25a CLINVAR:236014 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d631aeda-35c0-4010-80ac-fe20b99c2df7 CLINVAR:236014 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 383e0653-5d9b-4e8f-a0d7-91a05fffc593 CAID:CA367398735 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2572874f-d262-48d7-be4c-af65087cc9e9 CAID:CA367398735 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b77b35c8-58e6-40c6-aad8-243c8d6f2dd1 CAID:CA367398738 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4a8eaa1-5bbb-4357-b9a2-04b2fb1987d6 CAID:CA367398738 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 674f6807-81be-4dfc-93ba-333ad2197e4c CLINVAR:39759 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6cb42bf0-493c-44ff-b539-48edf4fd362b CLINVAR:39759 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45973cb0-2828-438e-8fd7-2b90c19a46ed CLINVAR:1685327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f59b2acf-1ff7-494d-8630-da270c0886b2 CLINVAR:1685327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef898af-b0a4-4c1f-9ed5-41658f6bf684 CLINVAR:16134 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1ed3b29-17b6-4562-8e1b-49d07e7301f9 CLINVAR:16134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d61ccfb6-3951-452d-893c-8383a0e05123 CLINVAR:393450 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93b0a53f-fda1-4485-b7f7-72a61363d032 CLINVAR:393450 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04fdb5cb-8f8b-4cb5-9811-f09a9a6ff779 CAID:CA367400787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdb2becf-c2e6-49b1-a930-091d81ec9124 CAID:CA367400787 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d2a20a-db11-449f-8ee0-999c4351f11f CLINVAR:447413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9ec6f0d-0c23-4d51-9a3a-4441630904f1 CLINVAR:447413 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb5a2847-750c-48e9-9684-4a5ade975eea CAID:CA367400788 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c12b4add-1838-4aea-9bc1-075debfc0d7d CAID:CA367400788 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d2627ee-5a1d-450d-ac42-4edd44d67ffc CLINVAR:585924 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6027719d-deb6-4435-b36c-05d66e165c28 CLINVAR:585924 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b33503b2-bfe0-4827-9e8e-0199d7d16edb CLINVAR:36241 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2643cb1d-e278-4d1e-8997-0460ec450d99 CLINVAR:36241 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46a49774-1fb5-4acd-9b96-cf91f16a0aad CLINVAR:1704126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2c13160-13b7-4524-a6a8-b9c803958606 CLINVAR:1704126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87dbc30b-9a1e-48d3-9ca6-c4b68e77f544 CAID:CA367402147 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89f3eaa8-b828-4f6a-9318-e6dbd5598f49 CAID:CA367402147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ce89808-9c6d-4f1a-a491-27ccbbb42772 CLINVAR:690481 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83d0f219-5a42-4d6d-9cb0-5f83018a084b CLINVAR:690481 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a43d0ce-0982-4ba3-acb8-d9860371ddb9 CLINVAR:825804 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8de39058-cc58-40fb-aced-1ca4b8809e9c CLINVAR:825804 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e04a718-76ce-4b85-91a8-023814217492 CLINVAR:480386 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2784933a-d646-40ad-be27-ed61e5fca621 CLINVAR:480386 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2797d0cb-fb2b-4ddf-80e7-29b17c1514cb CLINVAR:492727 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3da7a200-82bc-4981-a230-b5083cea0d85 CLINVAR:492727 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55ba62ba-9ac0-48c2-9f67-149dba8b88f9 CAID:CA377781872 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb8ca03e-8bcb-4237-8df5-498364e54964 CAID:CA377781872 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67573c44-e252-4355-91b0-5934c053f1a8 CLINVAR:936561 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63fe810e-4e09-49e6-87ce-d251492ebc6e CLINVAR:936561 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce9cdba8-b5e0-48af-9626-e23534c16e54 CLINVAR:1691744 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1e939de-a0ca-41c4-a939-62fc76468f56 CLINVAR:1691744 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b681c4b5-2177-4917-8fa5-4db5e631245d CLINVAR:1182096 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b5e7085-02b0-463f-9758-314fedb0cb13 CLINVAR:1182096 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdc1e592-46df-4883-a547-78b63e981831 CLINVAR:189481 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f53b5131-dddc-440e-ab67-1a9872d7c000 CLINVAR:189481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f061a18-82e7-4c27-bba7-a86d8bd5a11c CLINVAR:468680 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e565bb9a-e50d-4bf8-b23e-0d104ad406e3 CLINVAR:468680 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b6d15f4-50c8-43cc-9939-62e865fe09c8 CLINVAR:967900 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 429e3584-5d06-4973-b88b-e4faab3ceff1 CLINVAR:967900 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3d55db6-5b73-4cf0-81dd-349d412daf7b CLINVAR:13141 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c97cfb9-e2b9-41f9-b36b-3a4f86aa8471 CLINVAR:13141 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83534170-75fd-463b-bf30-23d76c47d373 CLINVAR:2019436 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ced1f92e-13d7-41e4-907c-42780ddad6e8 CLINVAR:2019436 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf0240e9-2bf8-4add-81e6-e53b355f920f CLINVAR:936307 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efd6becf-33b1-428a-b45d-921a8d50159a CLINVAR:936307 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c26b8ad6-3c65-4a19-b48d-98fa05084ac1 CAID:CA367402227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e974d921-0c0b-45e1-a4fc-6fddc7d78a9d CAID:CA367402227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94812a04-8b0a-4f0e-9e40-c03457e80ebf CLINVAR:435307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3062d815-3344-4679-b254-3c9288b86d79 CLINVAR:435307 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed1f64a-f626-4b66-9b1f-baa816586bb6 CAID:CA915940582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87f6a854-9865-4e76-8060-d8031574f33d CAID:CA915940582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2000c213-d544-4c17-9f5f-ea312e85a58e CLINVAR:323558 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c95c37e1-e348-47e3-a3d5-e39ec3fc0753 CLINVAR:323558 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03f501b2-4f67-4f0b-84a0-996087a5ef0c CAID:CA399805605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fce6e49-665f-48fa-8cc9-0ad522f11d91 CAID:CA399805605 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d0c4212-cde2-4656-b26f-58f4330c57b3 CLINVAR:892303 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51601600-860b-4cc7-8443-7b58130d56cf CLINVAR:892303 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ef520c3-493e-4b83-b86e-b4d93a5171da CAID:CA400021913 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d71caef5-d3c7-4f86-9dd7-a82256c3fdc1 CAID:CA400021913 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19258fd8-d064-4070-a63f-483999861184 CLINVAR:891087 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf07e514-38fc-4ca9-bb06-2f92b12e4f26 CLINVAR:891087 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f8be55c-374c-4fd9-befa-cd0df209d024 CLINVAR:627063 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e95cf2a1-c796-455f-883c-b46e6273f2f7 CLINVAR:627063 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b99389c-bbec-4e59-886f-8c0cd47f9b0f CLINVAR:654335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc0c679f-c524-48b7-be5c-af275c7d2065 CLINVAR:654335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7b5c08f-0556-4f9d-9ef9-0f34f28525fe CLINVAR:952576 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d36247a8-120e-4ed1-a12c-125be903e53a CLINVAR:952576 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc4f806d-d535-4b26-bea3-d41b2fbb7ba8 CLINVAR:4673 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b19d5499-be36-4ad1-bcae-6092ca53d3e2 CLINVAR:4673 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b97805ca-1723-45c9-aa7a-f1ade5a03029 CLINVAR:1322192 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ee98804-cda3-4357-8d1f-d08356f9274c CLINVAR:1322192 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93cdb307-e5ad-44cb-b48e-77c548aa7245 CLINVAR:657472 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a04e0c4d-2c30-488a-a4bc-b359180a4354 CLINVAR:657472 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efc2655f-fb26-42cd-88a0-ceae6d8bbbe1 CLINVAR:2136850 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d206c3cf-f1ca-441c-9027-f82be082c346 CLINVAR:2136850 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c905e92-0aae-4320-a5de-7303f0241ec8 CLINVAR:852821 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4509595-f4af-408c-8709-aa9ebf49c760 CLINVAR:852821 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77a4677-d22b-4548-a8c6-5330231f8b07 CLINVAR:2150998 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51186751-3bc1-4150-9ad8-21dfbf9eda2c CLINVAR:2150998 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d4596d1-002c-4df0-a1db-66310d39e2d5 CLINVAR:1041357 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3bf94511-5971-4fd1-b3e7-cd638ec6d23c CLINVAR:1041357 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d70fe6f6-1201-47ef-86d4-a4159072d394 CLINVAR:556878 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 480b0c13-2e3e-4f2b-af4c-2032504da632 CLINVAR:556878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af92419c-97d3-4430-a661-66c10a4aa78a CLINVAR:225196 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e870160e-062d-4aac-9376-709eab81c86c CLINVAR:225196 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0581f68a-a6d8-48fc-afa1-8de23b15cc4b CLINVAR:225194 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d594bdb-911f-4591-8d92-0a954e79a3dc CLINVAR:225194 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b4ca06a-6593-4121-8520-c4236dffe8e7 CLINVAR:947759 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efd21eb5-336c-4abb-9bd0-9194ac47262f CLINVAR:947759 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef4d2dc3-7abb-4992-9710-49231cd43721 CAID:CA413496512 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 365bcb05-4290-4a63-b334-7b70713d5046 CAID:CA413496512 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ade0123f-efa8-41a4-bbe0-99dd1e1428a7 CLINVAR:3028906 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc8267d9-5329-4c3e-8311-c25a09193a9d CLINVAR:3028906 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16f49512-6a7e-480f-a7a9-c58ab8c168f6 CLINVAR:3028907 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4dbd6f22-7331-4a7f-a9fc-d32519e1ab38 CLINVAR:3028907 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d074612c-abc6-4d90-a45a-335c67ab32b0 CLINVAR:585919 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff1eff6b-f16e-4f1e-933a-fbaa707e6368 CLINVAR:585919 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a33cae7-c7d8-4b94-aee7-670faccb0939 CLINVAR:973191 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd39e8e8-e913-485d-a976-ee7062147e17 CLINVAR:973191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c265ed23-9af8-4df7-99b7-d12560d7fcef CLINVAR:447397 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cefcb5d1-3cae-41bf-839c-090a5b926a33 CLINVAR:447397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b465cb69-f6fc-402b-86c2-6f0ec7bc3318 CLINVAR:522504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29a5073f-544b-4377-99fa-4ae6323b4422 CLINVAR:522504 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69170375-3bc6-4247-8018-ae6272895b86 CLINVAR:162369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae90dfc8-79bf-4777-a8b4-06395885044b CLINVAR:162369 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64be76b2-5bfc-4d7c-b7ed-fe300f20e6f4 CLINVAR:9654 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d3ee229-b68e-4602-89f2-30e14b982ca2 CLINVAR:9654 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22ee8449-ec23-4681-b2b0-8a5bcbbf4004 CLINVAR:9669 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 870a6856-d57b-4e98-bf1a-4f1cebc2559d CLINVAR:9669 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab1a9f3a-e585-4ab8-9876-f0e31e8375a5 CLINVAR:9668 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff44651f-9e5b-45ea-b24e-0c4e91234035 CLINVAR:9668 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4abdd003-c88f-4ade-98a3-fad2b0aff6ae CAID:CA367402547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f293e08-d6a5-41f9-bea0-7b11135da29b CAID:CA367402547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c59bc995-0a9a-4faf-83d2-3f0e96249933 CLINVAR:407115 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b24cb55-2854-477a-aeb3-b5c68cfae880 CLINVAR:407115 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7aa8e00-eb40-4598-9316-b2e4ade1af6d CLINVAR:435060 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b8ddef3-7a9f-4d93-a709-14fe71e24c7b CLINVAR:435060 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ec7f73-05bb-42fd-8d56-af4df5f552df CLINVAR:282707 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 915ff7b4-084a-4f1f-8f1a-edd808d3edb4 CLINVAR:282707 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1e55cc4-8acd-4ae7-b7c3-4a2b8bef25bb CLINVAR:458346 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22b234a7-20e8-4f60-8e1f-a3fb3e5b8d22 CLINVAR:458346 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0c96c9a-2cdd-4a2e-b2cc-7d3a202256b4 CLINVAR:618625 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e4a94e6-1f9c-4ba2-a9eb-fa817f6fe1a7 CLINVAR:618625 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27070d6d-cecf-4b7d-bcf2-959a2df2f354 CLINVAR:1352569 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c183cf7-2e78-48a4-a5c0-8dea7ce12ed8 CLINVAR:1352569 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37e6c7a3-7600-4dcf-9e0b-fb51106f6928 CLINVAR:426118 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d67288ea-b43f-48e2-bd2b-df28087787c2 CLINVAR:426118 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a747648-fd3a-4fc1-8fd3-ddaf62acd2be CLINVAR:565574 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88660f54-d269-430e-85cd-7302bdc404f8 CLINVAR:565574 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d5398c9-d92b-44ef-807c-b7e8e0502af4 CLINVAR:414302 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f838a07d-d98d-46ce-8a8f-0e77e6b98613 CLINVAR:414302 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a2c9df8-4aea-4ce5-ba6a-7ad753e90ea0 CLINVAR:8243 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 18243553-3ac0-447a-81d3-b992d55290b1 CLINVAR:8243 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d0d651f-c0b7-4c77-9a4d-c7c8843562b1 CLINVAR:1744752 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0332cb8f-58eb-4bd9-8b76-8658ad94159c CLINVAR:1744752 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b21ad4d-3827-48b2-bed1-52c28a70d6b0 CLINVAR:811065 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 491274ba-519e-4dd0-92fb-bfb81ac239c8 CLINVAR:811065 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8c7f5e6-f179-4e70-a872-c39bd736ab96 CLINVAR:657805 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3948bd2f-477f-44b0-8a03-29bf78e4f5f0 CLINVAR:657805 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8d255f9-482e-416f-93d6-c792071e8870 CLINVAR:994236 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35ca89fa-0fd8-4cf5-bed8-0b6ce12ae5a5 CLINVAR:994236 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bffe1263-c005-4b8c-b456-f5547b5c6c92 CLINVAR:848699 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a0c522c-95c3-4a77-b8ab-2d7b46e5b189 CLINVAR:848699 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65e720bd-02a2-41f1-b72b-caab5c6334d1 CLINVAR:212802 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a09b390-0ee6-4086-8e7e-735fa9d00d02 CLINVAR:212802 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde34d9a-8756-4f6f-b6fe-13cc4bbc78e6 CLINVAR:1948619 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94b92295-0262-4aa0-8682-71c930b747a4 CLINVAR:1948619 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6baa5cc3-43c2-41e1-b757-8c162c765305 CLINVAR:411300 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec72d9ee-d188-40b2-93d6-5dcfc227ad88 CLINVAR:411300 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c491f75a-8936-48ad-b003-2113c14f22e0 CLINVAR:426040 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 829946b2-6c49-45d6-bac3-6540cf47b131 CLINVAR:426040 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cac0f7a4-5f8d-4eec-810b-9dc2117c8102 CAID:CA605238909 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05d8b2b3-3d97-400f-ae23-1451f13ee52c CAID:CA605238909 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83c749f2-e295-4d6f-abfd-294cb8ae3cbc CAID:CA2740089968 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4e67141-1c5a-4bd2-8e3d-15cb69c8c94c CAID:CA2740089968 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 722aa56f-678a-4f97-8364-6aa7d00a1e5f CLINVAR:237027 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 382d7e2b-2818-449f-9b11-6ed2ffaa1e49 CLINVAR:237027 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 468b79a3-e022-4441-9e20-73c72689b4bf CLINVAR:9664 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a3ee0fb-3ffa-409b-bc93-aa67e8d265ce CLINVAR:9664 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86ed2800-9df2-47f1-8597-e3256a521517 CLINVAR:800503 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e4ab113-90b1-48f6-8d1f-8ccadf1c3a13 CLINVAR:800503 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b0d000a-274f-435e-9b38-eca0164b3514 CLINVAR:9686 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 959a76c8-e519-4898-a9ad-7e082f5d0d98 CLINVAR:9686 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8853b47a-682c-45b1-ae81-c644d0c1b356 CLINVAR:693440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 316e59a7-c349-43c6-9451-9f86ddeb6edb CLINVAR:693440 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dc80e58-0bf8-4c27-b881-5eab00e81270 CLINVAR:156375 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab7b8d6d-dcc5-4c92-bfff-c0cef566ec49 CLINVAR:156375 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05a8d424-4252-4d8d-85e4-8c8e171e43df CLINVAR:9604 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e521bba-b3b3-41cc-bf41-ec00c2395832 CLINVAR:9604 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fcdddee-4af3-4c29-94ae-7a85ff1bba2f CLINVAR:690169 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c349b46-634c-4455-9e75-9653da48e2c2 CLINVAR:690169 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 513966de-5231-4e2a-b097-b8fe7ad906aa CLINVAR:690161 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ad59148-207e-48b3-8ea9-fd0828b078e1 CLINVAR:690161 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5af74f2c-fd05-47b4-b203-9b5cf11510c7 CLINVAR:376098 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2d6e401-48f5-42f2-8a23-86240c62c31f CLINVAR:376098 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1cb2a01-d827-4174-be90-c7104a2a349d CLINVAR:451690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 964f1fde-2e79-4acb-bf71-411c57533c80 CLINVAR:451690 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21dd6cc3-fe8e-4b2a-ad7b-246213dbc758 CAID:CA367402001 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 681f5b0c-62af-43e0-99b5-25267d68d097 CAID:CA367402001 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d974eb39-0aab-4f42-b47b-f1926322a23b CLINVAR:36218 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b7a1b60-641e-42d4-ba69-f51a66a5900a CLINVAR:36218 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38c0231b-c4db-4245-87c8-4d8a51e116cf CAID:CA367401942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a19b879e-3d3e-4881-b45a-d16ee74b0f57 CAID:CA367401942 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceed5806-e3c1-4db7-bd0a-d4250e9572e3 CLINVAR:3066429 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00536222-f71f-430f-b86f-410e5a2de900 CLINVAR:3066429 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de8c234c-3574-4f02-a56d-f4ecd5ee14cf CLINVAR:3066438 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe67facd-fb52-415d-90fc-e9fae958de72 CLINVAR:3066438 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4f17f8f-99b2-4740-a9e7-1a230180576d CAID:CA2695201729 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7729f466-ac6b-411c-b95d-9a13438944c7 CAID:CA2695201729 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41b6e919-7cfb-4257-a16c-96273cbce177 CAID:CA415079810 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d36fb8a-6f94-428f-9a08-4089b27100d7 CAID:CA415079810 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c64833b3-02fb-48dc-9437-701cc061f715 CAID:CA2582121421 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da89d253-5ee5-4747-a3e8-f4ec8b876b06 CAID:CA2582121421 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc74552b-61a8-40b0-80d4-2f7b3cb7346e CAID:CA2582121298 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3881d3d9-1346-4212-bdf8-486da0174707 CAID:CA2582121298 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 615de57a-aa54-4bea-b2fb-c5ceef9b7b47 CAID:CA2582121175 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen caf556be-6bca-412e-8799-071ece089506 CAID:CA2582121175 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22ca02d8-ac90-48fd-ae54-174f5265043a CAID:CA2582120572 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f28c147-5b05-4e16-8971-6f6f831d8962 CAID:CA2582120572 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7aa8d40-11f5-4a1b-975c-9e7408e0e6e4 CAID:CA415083182 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c593e198-501e-4f72-a57d-cf8a3d86c8a8 CAID:CA415083182 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 220f950b-a81d-4f62-a7d4-961dc6399d61 CAID:CA2582130583 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03182624-b9b0-485c-93e9-a6d1d7125571 CAID:CA2582130583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff5f2cf6-f01f-4af0-a4d3-0158c2affc98 CAID:CA337220546 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a9179fa-d1c5-4a13-a30b-b0942bb0c7e6 CAID:CA337220546 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b5dc3f6-fc5e-4c17-972d-efd507278f2f CAID:CA415090852 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4cbf76f9-0972-48b9-ad98-41ec2773d349 CAID:CA415090852 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bcb7a99-2544-4e6a-acba-253c0ac4fa71 CAID:CA915940480 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f4aaec7-5388-497e-b017-ad90fe876f69 CAID:CA915940480 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0af1ec9-f980-4401-81a1-0584ae0eebda CLINVAR:11704 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cfdd39ee-6d48-4817-8b67-5fe457a3f59c CLINVAR:11704 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4cd096b-4ee1-4537-a2a8-71c881053246 CLINVAR:1303056 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33477669-d3b9-459b-8d41-f9d91d0c44b0 CLINVAR:1303056 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e91f1b3-a1e5-4d0c-af26-3ab2cbb1bdd7 CAID:CA415084403 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b53ea12-9a20-433c-84a2-56a67bdcd9e7 CAID:CA415084403 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0ab2a89-2e69-42fe-b36d-a9fadd24eb29 CLINVAR:2138757 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2986763-0112-4f34-a0f9-6f6106038adb CLINVAR:2138757 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7a11edd-8ea8-46a2-8a4e-fe3b5bd35c2a CLINVAR:92288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dd85a6c5-1df0-4a21-992c-2fe6507bacde CLINVAR:92288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8f6c63-1ee8-4101-8a1c-495153b32159 CLINVAR:432108 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3a2847c-5b30-448b-87d6-9d01497929c2 CLINVAR:432108 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56468e45-17cc-4ffc-94e6-4297dba72e18 CLINVAR:426278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c587d054-97fd-40f0-bda8-fcd3c1f3bb11 CLINVAR:426278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4aaddd2-2350-46f9-af69-9c5e897f02b3 CLINVAR:92472 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25fc865a-c0ac-4aaf-8f17-1da54ef446e5 CLINVAR:92472 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a6f1b4-9b46-415d-87c1-d9e392980d61 CAID:CA401366522 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 08db2ce1-f9f1-41a7-aaa4-357f7dfd2690 CAID:CA401366522 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d9b9d8c-d336-4dff-a42e-9608a3427467 CLINVAR:1695383 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d020e1f8-5920-49f6-b2c0-4c94db6b2b38 CLINVAR:1695383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 650406a6-4888-4ee5-b43a-5b2851224acc CLINVAR:1363605 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 198364c7-3445-45e4-8d50-950620563bff CLINVAR:1363605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d68262e-6ae7-41b6-b9d3-20fd3fc54975 CLINVAR:1897839 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 761c95b3-ff07-4797-b797-26cf4ea004f1 CLINVAR:1897839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1331ccdb-872a-416a-8cf7-8b46508a9a28 CLINVAR:2024194 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bc48718-cbfd-4f17-8e7f-0e301803de56 CLINVAR:2024194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e575de-b51e-4cfe-a3d3-0957acdc0bb0 CLINVAR:2018650 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen faf8fb24-c700-4e89-a9d0-1cce76362089 CLINVAR:2018650 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a795cd10-a09f-4ab2-83b0-556a513a1e3e CLINVAR:1996224 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5ed7343-264a-41a4-b6d6-9e824774a0bd CLINVAR:1996224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7a33e74-0495-4fd9-ae59-188b98114c65 CAID:CA1139771135 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 648006c5-2a29-4f4c-bc49-b97915c1adf8 CAID:CA1139771135 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3691489-d83a-4e2b-ae1f-2c700484f4ce CAID:CA410203348 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd4f7fb6-2f56-4378-abdc-a93a4698926f CAID:CA410203348 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f07eb2-564c-4aaf-a576-62bd763e9111 CAID:CA1139771058 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f31c018-a757-4840-b1de-c2b12b92f41e CAID:CA1139771058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 152d2844-fcd0-48eb-b18d-e1c93b2418d7 CAID:CA1139771067 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1da7c33-1474-40bc-87f2-512e8761647b CAID:CA1139771067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29a8e287-c858-4038-9be2-586243867a17 CAID:CA1139771059 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2aca4b40-4f2b-4d9d-8186-dc8b131b73fa CAID:CA1139771059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec0f680e-26a1-436f-98f8-b099b178c145 CLINVAR:972746 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 995b0dd1-c04c-47c1-ba85-56ed8b9b26b4 CLINVAR:972746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc640596-989a-4d86-82b8-516037acf7f4 CLINVAR:371277 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ef76970-315e-458d-a52c-e306bfb32e9e CLINVAR:371277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4033021-2928-4dc3-b9b9-04ebe2f3b67d CLINVAR:1219617 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4dd466d-35f6-40fe-bb5c-bd00229f4edf CLINVAR:1219617 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c0500ed-94b5-4f62-9787-f7dae63d6270 CLINVAR:555998 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f118fe5d-187b-47a1-a025-897c536c97df CLINVAR:555998 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cae8b3fc-0c1d-43d8-822b-f6733c1e0a37 CLINVAR:370278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e29ebbe6-6755-4623-91f3-0477ff45e117 CLINVAR:370278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b9517cf-db73-447c-8158-11fedc5681f7 CLINVAR:692768 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20da710c-4a15-4dd9-b9a3-46882c479eb4 CLINVAR:692768 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f1eb4f1-1983-41b0-9abc-ea1795acb969 CLINVAR:42227 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e64d90e9-9c18-4e18-9943-c011488a0e9a CLINVAR:42227 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a91c1f7-51bd-48a0-bc0a-da943e55a56f CLINVAR:9719 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54d5cef7-9bd9-4c71-aa28-5d395007637e CLINVAR:9719 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73676c7b-5686-41b4-9d8f-dd1a0e73685a CLINVAR:9697 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d846c2a5-6694-4eb0-adfd-599a4410dc4c CLINVAR:9697 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66c7e331-111b-4759-9cb5-d94c15908d49 CLINVAR:550716 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 07f28f0e-5505-47a7-9d61-37492f49903d CLINVAR:550716 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05794bc6-45f9-4e27-a0e2-030fc238140e CLINVAR:188480 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0fbc491-7049-4ef1-a533-d606948ce26d CLINVAR:188480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a9b6fa7-1f85-4073-90d9-d4998c3a4e1d CLINVAR:971945 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3197c833-a2ae-4f01-a688-2569418bb7be CLINVAR:971945 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bf2d367-ec27-4666-aab0-305b07753f53 CLINVAR:280956 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5425417-35bc-4afd-9632-00768e17b118 CLINVAR:280956 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dde5247-e8c8-4bd2-9776-1b7c1c27aa6a CAID:CA415088272 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8277f1c2-3f0a-484e-b514-3f1b79c3ae7c CAID:CA415088272 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce37dd76-af47-4aa7-bd2e-c8667404c3e1 CAID:CA645287847 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7eae806c-10c1-4d61-9975-b761ba1dbf40 CAID:CA645287847 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 802cd831-7943-4dec-9cd6-ef2b044f7fb8 CAID:CA2582131482 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af9ba491-5198-4b92-a8d4-edfe195ef751 CAID:CA2582131482 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe88fb83-c32d-4550-9c1b-a36d09231451 CLINVAR:44729 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25063624-1bde-4984-b822-b475e088a625 CLINVAR:44729 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 796aad34-fdb8-4957-b617-26c665a9b19c CAID:CA415077715 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea43ad43-8455-41c4-8476-7486a2525748 CAID:CA415077715 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5654bf1-f798-493b-9ddc-9ad61fc85825 CLINVAR:2290132 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 024ac541-58a6-4a53-8dd2-8f776b8f9f20 CLINVAR:2290132 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bc5a8ec-7374-4590-83a8-cbc768e7e6fc CLINVAR:551915 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 660ad29b-12a4-43b1-bffd-7c54209834ed CLINVAR:551915 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f9ee754-f08e-40ba-99f6-608e31070370 CLINVAR:2070085 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac77d32e-8974-42c3-8c0a-130ff8e5163d CLINVAR:2070085 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbdee00e-57f8-434c-aa36-6fdb721fddba CLINVAR:3066433 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e26e1e44-d3a7-4dcb-bd70-babfa10c7c3b CLINVAR:3066433 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14f9e8ed-4e62-49e2-bfc8-a75412ac6612 CLINVAR:11697 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87214bbd-4794-4d5b-b842-d2f9c2af774b CLINVAR:11697 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 638f014e-5e9e-41d7-8489-890333e11466 CAID:CA415086358 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d04dbe4f-7bff-40c1-918d-2f9cd0079503 CAID:CA415086358 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce376662-ba33-4b16-9ed2-51ff4198eff0 CAID:CA415086460 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c980b196-8d0c-4fa6-a997-5fa5d8b4b4cd CAID:CA415086460 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a203af9a-c7da-45ee-94f5-9f4d4307fb79 CAID:CA415086677 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa7994ac-8b14-4b7d-bf75-0be91443214a CAID:CA415086677 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c51eb386-fe2e-46e9-bd6c-0aa9d5fdac69 CAID:CA415087081 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78fcadde-0c9e-4641-acfc-6d8f965b4963 CAID:CA415087081 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27f9f7f5-d050-429c-b2e1-b6e9de002c75 CLINVAR:3066439 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92b7b332-6aad-4c76-a027-6aacdcfc2853 CLINVAR:3066439 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b0de843-bdbe-40f2-b69b-63cc41591671 CAID:CA519344969 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aca20ae0-0d49-4db0-982a-5ba3881a05b2 CAID:CA519344969 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 084a5e04-262f-4f68-a50c-a8dbf7b8e26c CAID:CA2466438179 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48b307c8-25f2-477c-8726-2961727ffa32 CAID:CA2466438179 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ba06aee-f626-46b3-8cc5-0fad0864ee69 CAID:CA415086699 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a940d1e0-d197-41a2-897f-89ed76144068 CAID:CA415086699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c07b48-a2c7-4a15-835f-00daf6c3f111 CAID:CA2580617569 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ca65a9d-e760-4fb3-b052-a024c6917153 CAID:CA2580617569 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919583dc-4e42-4fe7-b1dd-028e2321db6f CAID:CA415083128 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a92f2b9b-c06b-476f-b4fe-f48b119f33e0 CAID:CA415083128 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1fd9e6e-f8ad-4fcd-b81b-1a632fab90e5 CLINVAR:804101 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c4267ca-fb8c-4d82-bfd9-f7c57fc4cf31 CLINVAR:804101 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f919b33e-4e8c-4ffe-8079-3cecbc070944 CLINVAR:1802549 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f523a3c-f1e1-4809-b268-62d913ad2b79 CLINVAR:1802549 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c42a85a-fde7-4b53-ab89-02f2608b390f CAID:CA415077156 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1154e557-3a3c-4a89-8622-115043c463bb CAID:CA415077156 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef546c0d-4ba9-40f2-92ba-7c6961b65253 CAID:CA2579985607 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b0ff14b-0cd1-496c-b13c-5ba389a2758b CAID:CA2579985607 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a97b9754-14c3-43ca-a99a-48a0d2904612 CAID:CA415075833 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad83109b-fa4c-4cf7-ac54-53d2b2db9db0 CAID:CA415075833 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd328e4-f58e-415e-be1a-ca3a6311f361 CLINVAR:1256306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1c1409e-4328-4da5-89db-de3b564d3409 CLINVAR:1256306 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e93f351a-d8cf-41e3-b44d-4f28ee853c5a CLINVAR:585920 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 748c6e48-6084-4cbc-a5fe-1779b253491c CLINVAR:585920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36630a5d-92c6-4de6-9e51-86bc213ad551 CLINVAR:585907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64da8f6f-66cf-4541-b85a-e4f0d6d10a86 CLINVAR:585907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96e2fa7a-8c5a-42f6-8129-b0e879ad73d7 CLINVAR:447378 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d959a314-007c-40d4-974a-16bc6211e2f6 CLINVAR:447378 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c819efb3-c541-4989-a75f-0abe18473956 CLINVAR:36170 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2506ff16-269d-4b6e-9f7e-167c22f98e88 CLINVAR:36170 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 928b80e0-13f1-4bec-9bc8-b0defd2bf721 CAID:CA367400138 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9fe720a-3fb4-4ebe-85f7-aeb3be41e4f2 CAID:CA367400138 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a11beb61-79d0-46c8-8691-f4d101848319 CLINVAR:393447 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8b9d8ec-f249-4964-8768-a9bb1aa64ce0 CLINVAR:393447 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 394dc5f6-9d41-4ac3-96c1-76cd7f4cfaa3 CAID:CA367396861 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 250853cb-d26e-4662-a8b5-6b69dc566e05 CAID:CA367396861 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc766503-8e8e-41e1-8a47-0e71b5cddef5 CAID:CA2740067583 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f769370f-e085-4bf5-b1af-a41c81e9ef24 CAID:CA2740067583 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a499c7cf-d009-4f92-872f-ea6ae1c77c50 CLINVAR:1683587 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50140d84-923f-42d2-9c68-0a8a8ef730cb CLINVAR:1683587 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ac0ffa6-097a-41dc-b687-c915a6e90949 CLINVAR:800346 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a86cf68-fcbd-4465-a681-5fe537b59dfa CLINVAR:800346 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 932b4f67-9d7d-45ac-be40-c8af8e5fcccf CLINVAR:496628 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 068e4167-33ff-4061-9f04-992ec86c245c CLINVAR:496628 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deb6b1a1-aa59-4b06-92e7-a53bc9ee0c9b CLINVAR:36718 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 677bd348-9905-4dbc-9d73-972fc2ab8079 CLINVAR:36718 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d6e260-3560-445c-92b0-51368ed2e6b0 CLINVAR:36717 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c46ede07-6b6a-4816-86ea-29d5a5873ba9 CLINVAR:36717 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57575366-9fa2-4f86-8e55-f0cc80a35e48 CLINVAR:304553 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5e62c50-f4f3-46b3-bffc-584619dc3b41 CLINVAR:304553 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c8bb5c-6211-4a6c-ab6a-fb725cebb96c CLINVAR:496624 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca09a909-3a78-45f6-9c7f-4694c6b782ae CLINVAR:496624 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79c0b268-2f24-4647-a0f2-394fd555de6c CLINVAR:971474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa4ee86c-ce34-44aa-89e9-f03404349209 CLINVAR:971474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb66a06-9711-461f-8e89-393fa304b741 CLINVAR:1015912 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e7fe912-5504-457e-bcd9-3b9eda3aed7b CLINVAR:1015912 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af0c4eb6-a006-4854-98c1-aec4162cccc2 CLINVAR:1035293 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28139822-1205-4008-8f8a-e80f19161f73 CLINVAR:1035293 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9506078d-0c49-4fc4-b45f-ee010f69e00c CLINVAR:661326 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3b021f3-1de9-457e-8b30-9278b2f5868f CLINVAR:661326 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfac2749-4bc5-49d1-95a5-86dd59f70034 CLINVAR:2062424 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab259fc2-651a-4424-b5e4-defb8ffbb68f CLINVAR:2062424 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e192f91-a5e0-4540-9791-689a1427671e CLINVAR:958156 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3ecf515-d4fb-44b8-b507-8a12fd205f2b CLINVAR:958156 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe57dfc-5378-4053-a690-2fca7f5bffd8 CLINVAR:1936229 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49cc5a86-c4db-4d11-95df-0f688ecbede1 CLINVAR:1936229 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fb2ecce-b96e-4a4a-9b1f-41315eddde54 CLINVAR:1199335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ea641b2-a700-458e-951e-82d9f34c1fad CLINVAR:1199335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c455693-9a7b-41fe-83e2-b0aa063522da CLINVAR:860679 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03ef6256-3f0f-4404-9bd8-1a6caabba200 CLINVAR:860679 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4372d859-04dc-4abb-9408-11a63e3160c8 CLINVAR:9723 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71baf31d-f087-44f1-87ea-5f7a05aab80a CLINVAR:9723 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 280e3ceb-52f1-4094-b08b-c23f6e68e8ff CLINVAR:2138345 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen efca59b8-09f3-47fd-8add-3c3debf87981 CLINVAR:2138345 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00276b27-470f-4bf7-a865-036098dcb34d CLINVAR:134574 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57176228-f0c3-47ef-a20a-6ef1f17eb268 CLINVAR:134574 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae0b0134-2d16-4188-b682-07fd34b7864a CLINVAR:1406981 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 928337c3-9dd4-44d0-a1f9-d34773aebbe2 CLINVAR:1406981 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfd811bd-9879-46e6-af5c-8a6558164b31 CLINVAR:1068640 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c8dffe6-66fc-4c29-a0a9-c7a8fad78cc4 CLINVAR:1068640 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dd81436-2561-4c66-95d1-3a9068c34022 CLINVAR:714463 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95d92f3f-6cba-4a96-a5c0-511597544b04 CLINVAR:714463 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea7a18e-ca21-4b90-839f-d05e517bf7cf CLINVAR:994900 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6e56694-b59a-423f-83bd-12b5a837918e CLINVAR:994900 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 349b06ab-d0d0-4317-b662-13130054a6f0 CLINVAR:524154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11b33ce4-e928-4837-a83c-55587cedcb6f CLINVAR:524154 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 028467d5-3f74-40a8-9777-ae3459261e13 CAID:CA9870171 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d9bd7a5-9f64-4771-b5f3-aa3d2e44c940 CAID:CA9870171 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee67c2aa-8262-42d0-895c-277071eeca84 CLINVAR:156152 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1410af41-7406-4428-8103-e413105fbcac CLINVAR:156152 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8890aee6-4a13-4674-8730-039791fdbe62 CLINVAR:372382 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58db979c-5b90-44f3-bdae-108dea945984 CLINVAR:372382 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 158cbb0d-ebd2-4b18-8de8-a9b0b4a18b6b CAID:CA409103960 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68bdd2e2-ae6c-4367-bf6a-ca732f7e2ff9 CAID:CA409103960 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41ede633-49f0-4e27-b785-3886ddcfd6c1 CLINVAR:546494 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e548742f-525a-4a2f-a07b-d72826b74155 CLINVAR:546494 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc180719-cd53-4ba1-b709-f8a92b9e6d04 CAID:CA409103971 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40f76790-759d-4e3e-9d80-cac479350643 CAID:CA409103971 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10771bfd-4259-45fe-a79c-241003783e3a CLINVAR:435436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 249805dc-7e73-46b3-810c-abeea177b949 CLINVAR:435436 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bc4ce58-a637-4fdb-81f2-c34a62918c31 CLINVAR:520895 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d5edd10-d556-495d-b1ec-b9a4e0ab1474 CLINVAR:520895 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84339067-97ec-4db4-aa25-24b000fc01de CLINVAR:430844 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc313ede-963a-4f79-ad98-df74358c0170 CLINVAR:430844 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dd2b3e2-387d-420b-bb2d-294833252bb9 CAID:CA409104280 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66743fd9-8486-4831-b0db-39528afd05d3 CAID:CA409104280 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a04bc601-9296-4b4e-865a-ad362ef299fc CAID:CA409104356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e314273-e888-400a-96be-79190dcff50f CAID:CA409104356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d5d3120-82e4-4cdf-a909-a868185a88f4 CAID:CA409104394 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be5f3d4a-4a91-4e38-a24c-e18a48bee9a0 CAID:CA409104394 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7906768-a98b-4018-9a08-a8c46e7a7a6d CAID:CA409105356 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c185c267-aa74-41c9-88bd-ef8444235a62 CAID:CA409105356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44c1d0a6-2bdb-4f17-9fa4-7209f0cc01f4 CAID:CA409105413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a58e1216-eeaf-460d-8116-e9451ce66db9 CAID:CA409105413 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 644e37d3-7811-4df7-a17e-ee629dbd44ca CLINVAR:995121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52ba219a-6562-4695-afe5-6e98811eba06 CLINVAR:995121 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 555f2a92-42ff-44d8-aa08-9c0842689f81 CLINVAR:1457657 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9964e7e1-6f81-46fa-a5cb-26981da95cf3 CLINVAR:1457657 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b3c6f09-b307-4a8f-b425-e3ae6352e15d CAID:CA2573106197 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e85825fb-5e10-4553-a0ff-ca0bb8f0d453 CAID:CA2573106197 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7dcc75d-0771-4cf2-87bb-b7196a9820ea CLINVAR:450787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fbcda2d9-620f-487c-99d4-f20c6e29ba4f CLINVAR:450787 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67a2c9b7-28c0-43c1-8c4b-d348c859c6a4 CLINVAR:36364 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 601515f5-8a65-476d-896a-e3fcea563aa3 CLINVAR:36364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54931e04-e4de-4d6a-b7f7-556a0e4c99de CLINVAR:435439 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3dee0a15-6ee3-4327-bc47-557ff667c284 CLINVAR:435439 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c34a1014-6bd0-455b-82f1-cd4e328e4f69 CLINVAR:587398 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c16dccc5-0dcd-4043-b156-9587780da96a CLINVAR:587398 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b44bdfc-ba9e-4fa4-b944-3662ea44b947 CAID:CA9870374 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0debf489-25ca-4294-b530-2ceb4129186d CAID:CA9870374 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30907e35-2bb5-4097-820c-3eea36e56a3b CLINVAR:447524 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76094640-ae86-4de4-8d07-fd6d8458aa40 CLINVAR:447524 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a06c5800-3810-4a82-8ecd-e09ce8cf7d81 CLINVAR:804918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2fa84399-6d44-4409-8c83-0136a8f650ec CLINVAR:804918 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4deed12-ddfb-429f-8077-2d91b60b1e94 CAID:CA409108073 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8ef11bd-4cbe-4299-b421-4126835f51db CAID:CA409108073 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79b89adf-e40e-4809-b3a3-1e140606c3a8 CAID:CA409108074 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13afd8b1-3f94-4005-b0fd-33d310a4feb4 CAID:CA409108074 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 663669f9-4908-41ee-9241-643a747fc86f CLINVAR:447513 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c10e0ab-a7eb-427d-ac9f-f9ddffcb9bf4 CLINVAR:447513 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a14c071-ea4f-4489-9119-f133ffc11fd5 CAID:CA409110425 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7610930-2405-4a73-b0bb-5da2e27c7d60 CAID:CA409110425 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd1d0161-ebc6-47af-97f7-3de5abfb6d9e CAID:CA397725976 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e08a5e4-6b84-439e-a8d0-d914217899fe CAID:CA397725976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05a10c4e-126e-466e-b352-8bbf918ed4be CAID:CA415078666 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d6c8e7c-8f16-430a-92a7-84ebf2574ade CAID:CA415078666 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51a86f2c-5147-4604-9e23-4b66e85a45de CAID:CA415078874 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c12d0e3c-7242-4e14-a8e2-14516c24dc29 CAID:CA415078874 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1edc82bd-2c91-4f76-8462-97a0f677a684 CLINVAR:428204 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a5f2f13-3086-4ba4-9fa4-274f9a37002c CLINVAR:428204 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86b799b2-87ec-419e-a49a-568cf45e0ce8 CLINVAR:854960 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03de2997-4b74-4d7a-b66c-598a514465b5 CLINVAR:854960 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be98571c-3278-4d1c-bd0a-996a5c74790e CLINVAR:1406308 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c89b009-9587-4ec2-841b-650efde6260f CLINVAR:1406308 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b98d358b-9050-4614-861f-bff677a4c4e1 CLINVAR:428222 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf9cda15-4e9d-4758-ae6a-9deb1f11fd47 CLINVAR:428222 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a4072e-f259-4b8f-aeae-0d6876125271 CLINVAR:198683 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62ecde30-2a2b-4124-a204-16095b627b71 CLINVAR:198683 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b057bc35-8b24-40d5-8366-752ac82ae0f7 CLINVAR:166643 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1ee301b-8907-4ffd-b43f-20325e46dece CLINVAR:166643 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bcf56d8-4494-4841-949a-df73adb1a852 CLINVAR:952947 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c78f49d9-ad9e-4feb-a67a-2c298e8c4d04 CLINVAR:952947 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bed5e03-8544-4874-aa14-ad1517b1fff6 CLINVAR:1684354 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 809dae72-953d-4459-b9ec-82cefdf2d551 CLINVAR:1684354 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4c5e3a7-e76f-4483-a666-afb45cb50e37 CLINVAR:1695377 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0af4d4d9-e8c7-4d7e-8e40-292b39d2a96d CLINVAR:1695377 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c818a3dd-a1a7-48d7-94b1-dc23c05b3579 CLINVAR:627020 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50e2e0bd-9a5e-4350-897e-0829fb75e5e5 CLINVAR:627020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2381f78-02e1-4bf2-b7c1-5bc4dd8bc64e CLINVAR:1684321 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9064d83-d5d1-45fb-88d3-74d788eae6a4 CLINVAR:1684321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 836a8c22-fea6-42c3-8f40-54dac84240f6 CLINVAR:1684322 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cde7f6d4-e2ea-4af2-b4df-83b4254ecf90 CLINVAR:1684322 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40d191d8-5c2a-40d3-9072-79a4f65ad88e CLINVAR:932221 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5a6c014-56da-4ee4-be6b-13d55c8dcd96 CLINVAR:932221 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 445e65ec-09b4-40e2-88fc-d3b594719f54 CLINVAR:995370 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8629a1f4-a44d-4315-811a-50a4ed6ecf92 CLINVAR:995370 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 320e360a-2283-4526-80b0-703e6178450b CAID:CA367401928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 716d85b9-a72c-4905-ace0-b6fb70a1046d CAID:CA367401928 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89e76fd3-b332-4899-8f2e-3a9fe4468a37 CLINVAR:1741488 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7986882-8aa1-4da8-830d-694e684580b3 CLINVAR:1741488 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9880a432-b2d2-497e-b1b5-4407284ecbba CLINVAR:36221 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61630bc0-c903-434c-ac3b-6faefc17b448 CLINVAR:36221 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb5441aa-dc2e-41b9-8949-a4144469e9c0 CLINVAR:36223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c97ea5fb-1585-4bfb-a549-ac87b1f004f2 CLINVAR:36223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aecc4bbf-6b4d-4dc4-8c12-6106f197950f CLINVAR:447401 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0ad6b87-9502-473c-8da4-dee79edb0cec CLINVAR:447401 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cad45a7d-d9ef-4875-bbb6-7260fb47af41 CLINVAR:283358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8454e65-bfd5-4945-93f1-031467217ac1 CLINVAR:283358 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0fa53f0-08b2-4e34-80b2-168522d49e20 CAID:CA367401376 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbeecfa2-d57d-4479-aaf5-c674bb625d4f CAID:CA367401376 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a549995c-7662-42ed-80fb-10dc7af658fc CLINVAR:2431839 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31671bec-4979-4ed4-ae6d-13bdf528b159 CLINVAR:2431839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb277bb0-df8b-4a27-8f36-1e6b5df5c769 CLINVAR:1371376 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b83ac8e-7730-4e3a-ae11-704db8966be1 CLINVAR:1371376 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11c36df6-87cc-4b18-9ded-7b1537d4685b CLINVAR:973969 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8512767a-f9f1-466e-8227-602a58ede10a CLINVAR:973969 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dd91ead-20d7-44b4-b634-6b9452a133a0 CLINVAR:1452579 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c61799d-6744-4639-b45a-6af9244f27ab CLINVAR:1452579 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff22367e-93b0-451b-9baa-05e1b9ad21dc CLINVAR:98821 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb244a2b-5fc9-4ef0-9adf-87cfb88a4e6f CLINVAR:98821 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2e3fcde-8f77-4165-ac75-53e7b1b55b6e CLINVAR:1212838 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6e37262-e029-4d45-83c7-5fdab0e4a243 CLINVAR:1212838 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb5bc57c-c21c-4a11-882d-78d5b2d81ea5 CLINVAR:427868 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a79aac8e-d9a6-4867-bb56-cad0d9fb5df5 CLINVAR:427868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38cbec79-a348-4c84-90cf-fa78531d7872 CLINVAR:98830 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb15fdd2-6e8d-4e79-96c9-eb3b38f37cce CLINVAR:98830 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28b31502-6939-4994-9f98-281c87e1b702 CAID:CA340742683 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 944c7871-0cab-4fdf-9fa8-e358a1b66215 CAID:CA340742683 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad996a6c-8907-4901-b26a-f353a1d049a5 CLINVAR:2131688 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1b1fa32-dbd4-4cdc-ac17-5b65d085ee0d CLINVAR:2131688 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef4fe33-2a6d-455e-a827-c87715bb0ac1 CLINVAR:850613 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3110586f-a2e7-42eb-aee0-34a2c076e09c CLINVAR:850613 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 466f4c0f-9f25-428b-8c07-b8a0e3f3eadb CLINVAR:1452575 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 006eb768-e96a-41d4-9ead-c1ab5a0da7c3 CLINVAR:1452575 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ebbfeeb-84d1-4d2c-bd4b-0578aaf1e248 CAID:CA340741708 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a667505f-3077-4b4a-84df-a280e2e258e4 CAID:CA340741708 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b30b9a0e-8f40-41e5-84ff-646fad26ee74 CLINVAR:1321180 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36112872-5599-4ffc-aac0-b92340b7f1f8 CLINVAR:1321180 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8d9cb24-19b9-4820-a9f6-cbe178b24b1a CLINVAR:813222 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b59c4fc2-66e2-4782-b790-fd121706cf15 CLINVAR:813222 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ac60f6-f490-4507-89d3-7dcce2822dda CLINVAR:1384701 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8697d40f-67d5-4c46-842e-f6830ddf57d2 CLINVAR:1384701 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71ed7f3a-e0ba-449a-a55a-5faf432d1f85 CLINVAR:1445004 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4747cf8-b798-4a65-874a-1631d4c3dfbf CLINVAR:1445004 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0392069e-0ba0-4b13-8273-ec5482f72590 CAID:CA340750344 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df60c37e-1ca4-47c9-85c2-7f7e5593b9b3 CAID:CA340750344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d0b8442-a967-4157-b25b-e2f9698f33cc CLINVAR:559523 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b8b8c23-e9b2-4ece-8674-e09db9566226 CLINVAR:559523 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2e80580-7de0-4b43-88f6-f53a94e60858 CLINVAR:98873 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85262003-ccea-4532-8f14-3573b031bf2a CLINVAR:98873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3797aebd-4f7c-461c-bbab-af3f5ac50fc0 CLINVAR:98875 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1581f48-6572-42cc-b79e-1196f55881f5 CLINVAR:98875 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67f3c63f-6263-40ef-b67a-784bddd3b3b0 CLINVAR:1074826 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75c5679b-b471-4391-a132-f558e54b78c5 CLINVAR:1074826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f0f7543-0d5d-4f61-b8dc-157e289ca5fc CAID:CA340750220 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3ae7b63-b0a3-402d-aeb1-cdbeea8ab465 CAID:CA340750220 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7997378-797b-4a4b-8a0d-da1ca35f22ce CAID:CA2586966741 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77dd3ab0-72a8-44de-9cab-b82a348fa3fd CAID:CA2586966741 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e82caed-fc76-403d-8d2a-99b0ecc82c8c CLINVAR:437985 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90c75264-db79-4233-83c3-728f5080c115 CLINVAR:437985 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a74d8b6-bba5-47d5-9e9a-e61328ea9501 CLINVAR:556104 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a6cbac4-dbf7-45ec-a6d9-20c2316acb95 CLINVAR:556104 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c719b583-550b-419a-8605-00eed730a43d CLINVAR:98891 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98e7642f-699d-4162-aa0e-f3314f782310 CLINVAR:98891 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b5f5110-01e0-41ec-b0c5-d54be3d02e58 CAID:CA2695202184 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcb4d2af-5257-4fdf-8b21-9a68ccd6bb61 CAID:CA2695202184 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4c4c81a-fbca-4668-896d-341414377c50 CLINVAR:98895 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c08e326-08d5-4c25-921e-229d9578af32 CLINVAR:98895 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d203e036-155e-4efa-8451-3207cc0fcace CLINVAR:1679125 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9705e59e-93d6-4f3d-9322-9ba2dbe1043b CLINVAR:1679125 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ca6618-36ee-4956-9151-75103bb7416f CLINVAR:98902 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 441ec972-dfcb-4c55-ae65-4803837d94db CLINVAR:98902 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd97b8bf-03f3-4c6a-97f7-135316a759bc CAID:CA340744560 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24d2f045-be9a-458e-896e-e0b77287b618 CAID:CA340744560 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 162d1b40-1c55-4ee9-8aa2-0e42ee87cbe1 CLINVAR:971195 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd633355-9c6c-4096-b66f-d81f5dd4c191 CLINVAR:971195 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc0c76ca-57a4-458f-841e-0defe52cec74 CLINVAR:2098676 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1516938f-5c75-43b3-a3ad-93b08a492bd9 CLINVAR:2098676 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c64e2be-3f01-4a2d-bd6c-acbd2ccdb177 CLINVAR:1515226 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0a01f87-2064-4d05-8aa4-95572efdaf41 CLINVAR:1515226 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44bdafab-4178-4642-8104-5529b1b0cea1 CLINVAR:1348464 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5e112a0-ea14-4046-976d-a3b99ecb198e CLINVAR:1348464 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bee946c-8290-40d4-b266-ed140bf6ca82 CLINVAR:2269371 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 270d7636-c37a-4654-9c82-49e9095f4a7d CLINVAR:2269371 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d8b0c76-8537-445c-bc1c-403809d74515 CLINVAR:843919 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04c38b20-8927-4038-8070-876c32137f59 CLINVAR:843919 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1042ad9-8a8c-4878-a565-9865b41d8af7 CLINVAR:2079766 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 785ffa12-4d6b-456f-8940-2996e1bb9f1e CLINVAR:2079766 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6ebc7f-33f2-4d22-9cb2-87e76518e856 CLINVAR:2199784 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3c015ce-04f3-48ed-a539-63dbd2516502 CLINVAR:2199784 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a303412-da42-4896-8427-3388cdf06a90 CLINVAR:1038658 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7f44d3d-be9d-453e-9477-b2b5efd2eba0 CLINVAR:1038658 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b73b6859-944d-45ff-bd5f-ee9f8aaab957 CLINVAR:1195941 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be51cda8-5ad9-4bc3-9a25-459c7c7abedf CLINVAR:1195941 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df9b04a4-31a6-4371-86fa-6eb17c8f62fd CLINVAR:1507601 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 433ab2d7-632d-4de8-8696-291373e6ae36 CLINVAR:1507601 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb3994ff-7938-4732-97d3-47a5783620a7 CLINVAR:1357028 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d13a285a-dde6-4f24-9739-580681920f08 CLINVAR:1357028 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 146cc960-983d-46a3-9006-b674c8b93d28 CLINVAR:950101 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4bb578c-f893-40fc-a6d9-5fe7ff4b20a0 CLINVAR:950101 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9bb87f4-2d99-4847-817c-2c47a8fdfee0 CLINVAR:1626393 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41764055-8136-467a-a33b-2a371ad5abf7 CLINVAR:1626393 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 802c737f-5a0a-476e-a6a2-2479cdcf940b CLINVAR:2009484 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29cb2ee1-4096-408f-a867-9c3b53e6dcfa CLINVAR:2009484 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9359664-9cc9-4507-b17a-543f7b35f057 CLINVAR:845973 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41af0726-dc80-4515-b365-ff80edcbf2ba CLINVAR:845973 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 481342c5-458b-4254-ac6d-efa359599eb2 CLINVAR:897016 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e5d84fc-a5f6-4fb5-b2d6-ae989e67c311 CLINVAR:897016 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b82091a-3b68-4724-b414-dd94815b2d60 CLINVAR:194316 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da1fffd0-2237-4d69-89a2-7ace2448b1eb CLINVAR:194316 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4ae334a-9ece-49d0-831a-3889b85646fd CLINVAR:541723 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 825a20f2-a81e-4eea-aa4e-5c9e65ca5c0f CLINVAR:541723 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a602cf35-ef69-40a5-bdc9-7b1b474cd176 CLINVAR:36199 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9814696-7500-4417-9278-67fdff0f42e4 CLINVAR:36199 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b61b11e-1d68-49d4-b53e-9138dd8b5009 CAID:CA367396925 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b562408-a53d-4911-aad1-d52f84849cb1 CAID:CA367396925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a7b1b31-f81e-4e89-a777-39a5ff710a25 CLINVAR:36195 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0bff1ec-69ec-4ac6-bcee-588ee2367608 CLINVAR:36195 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a62e597-964e-48e7-996b-be2166d1f09a CLINVAR:36194 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a22e0c51-17dc-4ddc-b344-5f2c9f825b65 CLINVAR:36194 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df505124-3681-4f8e-b3cf-f7ecc53c3009 CLINVAR:585912 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d0f56ca-35f1-4058-936e-b09b33cbee97 CLINVAR:585912 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ec8390-1ed4-4885-87a1-9f652f0a3bba CLINVAR:36189 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d37fd9a3-8d7a-4583-b796-80e3bd718697 CLINVAR:36189 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb54377b-638f-409c-945c-7e6669abb966 CLINVAR:447389 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c7627b5-6d6a-4ddd-8e17-793cfbb45251 CLINVAR:447389 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1be31bc-ed9b-484d-b8ba-ae47d47495e8 CAID:CA367398282 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e3205a7-f761-4a88-88e3-c158bace3b06 CAID:CA367398282 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 420056b2-84fc-4400-be98-da8d5a8587b6 CLINVAR:2734988 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen baeb1ffb-6af7-4e1c-ae46-158340c8b099 CLINVAR:2734988 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b70f0f44-82d5-4793-97d5-696dcf33b544 CLINVAR:447387 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8a9caaf-1cf4-4419-96d3-ada98a261af3 CLINVAR:447387 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43650532-6525-4e22-8a31-76b464d69046 CAID:CA367398289 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89eb82f4-2c57-4a05-a751-50841d0771f1 CAID:CA367398289 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de744a9a-39b2-437b-bec7-3d2283870145 CLINVAR:447386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30758564-4c6e-4086-b6b2-989c3ea196a8 CLINVAR:447386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6d6b851-548c-4299-a713-31e8d4276d8c CLINVAR:3233995 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fe80e79-88b8-4846-8854-e6f5e7862b6c CLINVAR:3233995 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcfe4ec4-981a-4fa2-a5e3-8d01dc3eb043 CLINVAR:1472875 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f05d9b32-ee12-4a04-a1e7-85da4576bbfc CLINVAR:1472875 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 259983ba-c5ad-4d97-8275-e3a9d799b386 CAID:CA367398311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 874c9e2b-d674-4e30-8a2e-630ab2aef65a CAID:CA367398311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 849e21b7-3aed-486b-8f0e-edb8a8ff9923 CLINVAR:1303094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10b54f46-280a-4b83-991e-ab611268b030 CLINVAR:1303094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a95c2d2-1ae4-4b73-ab28-5355fdd63861 CLINVAR:36183 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c55588e-8e04-427e-9bc4-4cf8a3f5ff19 CLINVAR:36183 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78404e00-cfd4-4564-b797-5ed2431e53fa CLINVAR:36184 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10db2de8-6556-4ce1-b11c-2a338a7dec3f CLINVAR:36184 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7025e387-38d2-46ff-b71d-a025722ad994 CAID:CA2580610955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f25e34d-8478-49b3-9511-243b67276932 CAID:CA2580610955 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41787619-95be-41d8-9612-3bc9b73afdbc CAID:CA367398660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 812df1e6-a661-41e1-bb7d-8ab3132bd322 CAID:CA367398660 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34aabb38-6b61-44a1-a07e-cac4413eb42c CLINVAR:3233998 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff0f7776-c794-4c58-a95e-849cf38aa547 CLINVAR:3233998 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc505241-8d62-482b-991d-5af290bb77fa CLINVAR:280892 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8affb3bc-b863-4f35-b3bb-8ebbfc0077e4 CLINVAR:280892 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52d3c359-befb-446e-b5b4-1bdf33638de0 CLINVAR:36180 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e037318c-f461-44a6-a564-5b87ab211f5e CLINVAR:36180 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de43a3f-d175-4d77-a8ce-2ea61e950d2f CAID:CA367398699 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51c69ebe-ffdf-404e-b664-74b1481cba53 CAID:CA367398699 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77b1cb38-2b2d-4399-a55f-553a831f6722 CLINVAR:804837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 422927a9-3382-4b81-97eb-348a6bcd6736 CLINVAR:804837 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc305f63-2661-4ea7-a1eb-1ac3ee8468c9 CAID:CA2580612101 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49679fb0-672c-4295-9c03-3970174d8bb4 CAID:CA2580612101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b6e0450-4684-419d-8650-2bf4a0952fb9 CLINVAR:219179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 028782c1-432f-4131-ad21-d9b8d9c1e0d0 CLINVAR:219179 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7dc4fe0-deee-4ba1-b407-4b48b52a3554 CAID:CA367401894 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06f416a3-0555-4537-a994-6f231c125cf0 CAID:CA367401894 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea3e5280-4f68-455a-8d3b-37a4ba4e973b CLINVAR:2567920 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c94b9bca-081b-4654-9fd2-143f23a16024 CLINVAR:2567920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9eb9170-319f-4d9f-86ba-63cf0917eca0 CLINVAR:1512780 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 945cfe9f-f344-4b4b-b91e-1d580e7aa83d CLINVAR:1512780 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e20a76e5-5c5e-4c9f-ac31-02fd8aa4e89d CLINVAR:990457 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 036333a9-3f99-42c3-a1ba-5226d5031013 CLINVAR:990457 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9707ca2c-dbd0-473c-9058-b6149de1b41d CLINVAR:1309924 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen adebccfe-41bc-459d-924a-788d567d54d6 CLINVAR:1309924 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 244cfffc-004a-43d1-b511-b90313a61ce5 CLINVAR:898483 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca3ac8e9-6975-4c0e-a0c7-894f9067f253 CLINVAR:898483 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0b08bc0-81a9-40a6-bf67-3f6b67b496d5 CLINVAR:8800 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 752a4310-bbb9-4884-9255-f2bdc1fa8936 CLINVAR:8800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d6e5e4a-4cb0-4b17-ab71-e93214fcc602 CLINVAR:812796 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f51e249b-dc92-4432-b52a-36a9de599bfb CLINVAR:812796 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06668a81-fbd3-4d61-9469-43ed9b4f6d65 CAID:CA409106055 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bfc63664-600d-433b-82d6-d8e10f6da96b CAID:CA409106055 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb8b2b39-bd88-41ae-adcf-7fb43f50d82a CLINVAR:304560 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1a3d2a4-8c34-4a7f-8a85-88e75856be35 CLINVAR:304560 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e66286-64dd-4ca9-8c1d-4ad59bc50f1d CLINVAR:2301303 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57776741-f094-4134-aecb-4821d33a45ab CLINVAR:2301303 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d9d3a8f-d27e-480f-89a3-74c4acba5328 CLINVAR:857533 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8bbddc3b-db27-441b-a2f0-430d2687dec5 CLINVAR:857533 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e326bf8f-fd77-49f5-b96c-7f55ffb5b03f CLINVAR:658239 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 869b1df6-ecf5-4381-8884-bad5a90e95e9 CLINVAR:658239 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4fae91c-bfb3-4ed1-bfc2-cc3f67429a56 CLINVAR:879522 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80b3a3c4-53e8-46e7-bae1-ef8bcd08a7da CLINVAR:879522 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ea46cf4-bc18-47eb-950d-0b24410bf3fe CLINVAR:990456 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21400f1b-ff49-4755-8a42-681d6cc68861 CLINVAR:990456 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdc8eb52-5d9a-40ce-841b-b92da4482798 CLINVAR:662119 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d75df892-0fbf-4777-9ef1-56ba79f55ca6 CLINVAR:662119 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73f61d4d-08fd-4c63-90a3-2817e452fc4e CLINVAR:382795 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 076333f0-9a43-49d8-a1c7-62af646e980a CLINVAR:382795 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2b2cbce-a0ae-40c1-b5df-f8a56f3265c6 CLINVAR:1015428 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac3dceb0-aff4-431e-af43-2a543f94595d CLINVAR:1015428 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2d8bc06-5f95-4c1c-b85a-ff032381a1b0 CLINVAR:960745 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3279541-de01-4c5c-9481-37989689a45a CLINVAR:960745 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70defc72-15ae-4916-a9d5-627f03835a67 CLINVAR:2147602 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96b906ac-23da-45ab-85ce-5a50daf9f557 CLINVAR:2147602 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5629b6b4-e771-471d-8430-aaf4bc30505c CLINVAR:1696220 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4ff621a-8030-42c0-bb8d-cebbd674c69f CLINVAR:1696220 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 084bd77f-2f4e-458c-9d49-41b07393f503 CAID:CA409106957 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6214abc-76f0-486c-938d-c5f5e6525504 CAID:CA409106957 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b9e8976-fd48-435e-be6d-a22dbdf40ec1 CLINVAR:212810 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f2150c4-f42a-4281-a1a3-5fe5215a2857 CLINVAR:212810 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6822227f-3bd7-442c-8fe3-acf9c8981e96 CLINVAR:8799 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen be3258a2-89e2-4bc3-a831-fce1f6f1212a CLINVAR:8799 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3ce60a2-1e8e-46cc-9526-0f218eafb15e CLINVAR:333645 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24aa95d1-5c30-4e3d-906e-8afa2f4b6fc6 CLINVAR:333645 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64a2d97e-5f79-4dce-95f6-dcb2f7d6f1d1 CLINVAR:898486 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dd6a2a0-a64d-4e6c-9f43-5532aad0618b CLINVAR:898486 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 240caf8c-1701-40a9-bf1d-6031b7ffaf92 CLINVAR:409829 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3172c45c-95b9-47a4-830d-1548abea1c91 CLINVAR:409829 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1d8daa4-b360-471c-a107-546e4ad3f1d0 CLINVAR:425943 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34d92349-d9a0-46ba-bf49-8ca09420c3fc CLINVAR:425943 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e839035f-e94e-4568-a2b8-c4ee2a77d452 CLINVAR:8797 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dbf8d0e1-3bc3-4032-b275-15b2d0a51340 CLINVAR:8797 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e048572-e49c-4d11-aa48-13243a364613 CLINVAR:425725 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2b0dfd54-54b9-47d7-93d2-efe79f07587e CLINVAR:425725 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d4ad2ce-ff97-4cbb-b61d-6e90bcda3b86 CLINVAR:8806 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44e9fc90-12e6-482f-8511-6de233cf21cf CLINVAR:8806 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 001f5690-8066-4d54-9331-7039886c6b7a CLINVAR:228460 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f67315d-0984-4b82-b918-c0979a7287d8 CLINVAR:228460 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc19fe1-2096-46f8-a2c1-3436fe39dddb CLINVAR:425852 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32991aa3-9418-40fb-b334-868f7e9b111d CLINVAR:425852 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f98630a8-9cdd-4b69-9c59-2a3171de4746 CLINVAR:409828 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3293aa0-1573-435e-8860-649a9ec77ff2 CLINVAR:409828 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe03006b-14c4-43f4-8ab7-d9443b6b4c7c CLINVAR:333647 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 540d2331-3e0e-481a-b524-7baff62a004b CLINVAR:333647 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ca25a65-e7cd-4d05-afed-66f8731c569f CLINVAR:8813 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fccfe63-3cfa-400e-b95a-d346f886f6b3 CLINVAR:8813 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b4f79e8-8bc0-453f-b33c-69d1b6c93ece CLINVAR:623142 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a114532b-351e-491c-9a90-8e94c16a23fa CLINVAR:623142 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecc75fa9-2ba9-4ab2-9a3d-8a5e35e9af60 CLINVAR:623143 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 144e3756-aa32-44dc-9e9b-6c561c22429a CLINVAR:623143 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b951d7e5-7dea-4a18-8de7-0c17f30f7c8b CLINVAR:425800 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bca7d1d2-0da2-4e8b-b610-eae0e3095959 CLINVAR:425800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 593614a4-8874-49de-9e32-fa60e8189472 CLINVAR:627027 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5525c38e-9696-4664-b8ef-f2f8bd519461 CLINVAR:627027 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9e90bf8-dc66-477d-83f9-9e899bb1595e CLINVAR:627268 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91ef32b3-c906-4e4a-a84c-42eebd7c677c CLINVAR:627268 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6df7979-345f-4b49-b075-6ba99d54bde9 CLINVAR:626981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c598522-3e4a-49c4-a800-2ddd7f294143 CLINVAR:626981 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc8b5b2b-bfcd-41bc-940d-6a177017ec17 CLINVAR:627284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e152d7b-82a3-4228-8cb2-6b18d530cd0c CLINVAR:627284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a1aa157-9766-4013-ade9-20848b46ec6c CLINVAR:2092257 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6226e737-8ee1-43e8-aefa-facf74a74137 CLINVAR:2092257 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a8b9cf-fcea-48c9-a49a-4e717af2d801 CLINVAR:425731 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7606b8e5-f722-40ff-8a77-7e748ded6274 CLINVAR:425731 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb34d7e0-9ec3-4e4e-a935-84d4a5d8c039 CAID:CA400034189 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 600db083-5fb7-4d03-9f1a-82cbef82c179 CAID:CA400034189 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb0ba71c-7184-4d79-8ec1-319dd83d0081 CLINVAR:626948 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d53c9661-1de2-4d24-9861-fb1008d9d946 CLINVAR:626948 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cda71ff-87e4-4fdf-b0ec-41919a19a53e CAID:CA399803746 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81c6aa97-87bc-41a0-b92f-689ef4a3e943 CAID:CA399803746 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2c43b39-2b5a-4b8c-9260-1d90dd8d196c CLINVAR:1349574 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab68c5bd-70b2-41bc-b72e-52509206064e CLINVAR:1349574 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e31bdb3a-b1a2-46fc-8499-6c06e36d85cd CLINVAR:36713 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ec8e476-7ee0-4a5f-88c0-7261faf12907 CLINVAR:36713 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6602cd0-f499-4f56-8f14-6cd169fd7ee3 CLINVAR:1365761 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb63d832-b846-4328-88e4-b4b7cf4cbbde CLINVAR:1365761 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea5cf07-8940-4eca-b62b-74032620baf9 CLINVAR:207024 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0dbed224-566c-403e-b761-7a25305d3eb2 CLINVAR:207024 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c6ce6bd-5d8d-4717-b221-ef5638d00196 CLINVAR:189929 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e2a7ba9-3568-43ef-9a5e-54735d548174 CLINVAR:189929 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b76bc465-d559-4aeb-b2a2-d9aa673faeea CLINVAR:425938 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a4b83c69-128d-4e8c-a79e-18de169b4e9a CLINVAR:425938 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fc48810-fb3f-41e7-95cc-098ff979ed03 CLINVAR:1759366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffe57f3f-8029-4be3-ac1e-1eccda5c2d02 CLINVAR:1759366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 492c0b76-490d-4d89-9d10-d3f639e96584 CLINVAR:656642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a73de08f-6470-4004-82e2-50576fa2a7e4 CLINVAR:656642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756cbf1c-5261-4f62-b519-676611365e6b CLINVAR:850948 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f87d6f83-b641-42c8-b54f-2a878404a1cc CLINVAR:850948 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 956f113d-c99a-4a2b-9fd9-fd99de6cdd6b CLINVAR:826421 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 009a4ea2-df79-41bc-9832-a06d93c25b4e CLINVAR:826421 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0701e072-7e10-424c-b348-e98eca147ed9 CLINVAR:543562 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f621a90-130a-4a9f-8b32-40f56a99b7bb CLINVAR:543562 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f463b0e4-6418-4168-97cc-fc1851a379cd CLINVAR:570615 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7be6ebf2-58a4-4711-8149-2640639f4509 CLINVAR:570615 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c13fb5e5-4b99-446e-8004-d44988f159a1 CLINVAR:412143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 877c6d24-0386-4592-9c77-55d7b67baac9 CLINVAR:412143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c4151e-9000-4c0c-b47e-8cd45e27456a CLINVAR:652143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 705b61f2-32a5-4799-b3cb-c70adc6d8b9a CLINVAR:652143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 096cac10-a46b-4276-b47d-a826dec409c3 CLINVAR:479649 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be03b7a0-fa85-4ba6-b19c-b26d1b278b70 CLINVAR:479649 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e0e347-0aa2-48fa-8fda-267333143f09 CLINVAR:477204 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc4d8111-077f-4144-936e-1efd27d07682 CLINVAR:477204 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e3cdb1a-b3b2-4f66-afae-233d7f17cb71 CLINVAR:1687238 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d46829b5-1d4b-4637-9d7a-6b2ba040ecef CLINVAR:1687238 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4038b4ac-0c71-44d8-8b54-3d8b157cb67b CAID:CA390867526 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 511949b4-9f5a-4188-9a78-4a261fab7bee CAID:CA390867526 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b24faa7b-695f-4692-9efc-d1d273386bc1 CLINVAR:285157 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a8cf24f-109f-42fb-a3b0-7001c34e1a2b CLINVAR:285157 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97e96e59-db78-47f3-b2d6-b0893918a262 CLINVAR:189124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7549a20-0ad5-453e-9a60-8af3fd5d443b CLINVAR:189124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ec9623-76b9-4329-8c11-df9ebd5d2cb6 CLINVAR:253297 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14d7730c-155f-4467-8111-192495f48bf6 CLINVAR:253297 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7473db4-5664-43a4-83b9-e0576d386f3b CLINVAR:694309 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58640723-2a4d-4d7c-947d-32729946e766 CLINVAR:694309 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a9640d2-9b63-444c-b0c8-22a9fa1586d2 CAID:CA2586970245 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8099efa1-62b9-4639-a1bd-c67885495728 CAID:CA2586970245 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06961d50-290d-4de7-a34d-26a8f828eb67 CLINVAR:189869 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f31edd0e-34f0-4442-a8cf-a5aef040fb93 CLINVAR:189869 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c840dd4-710f-435e-984b-050e63602886 CLINVAR:373960 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 337053bb-0366-4de4-bd38-2af90763d0cd CLINVAR:373960 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62ad3e1a-903c-4f62-9c0f-0722420c97b2 CLINVAR:68689 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5ec5de6-6de6-41da-9a6e-633516128432 CLINVAR:68689 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ecc435f-7fb3-484e-b961-4c7d12503b1b CLINVAR:206852 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bcd738d-b610-4d38-8f55-32216c67de24 CLINVAR:206852 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d41d73f-2b28-488b-9f21-2b5254b812e1 CLINVAR:194555 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e467831-25bd-4aba-a73c-7bb8f33d4a65 CLINVAR:194555 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98ba0d1a-4f63-4575-94d6-23518059be41 CLINVAR:1478168 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d383be2-b7fc-475d-93f4-cdcb56153f75 CLINVAR:1478168 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88fc889a-04c5-4988-8533-ed2843f480db CLINVAR:1342669 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 617c2a3f-8de7-44d6-9b01-1f4314473362 CLINVAR:1342669 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d65957f1-4fb2-4269-aa57-2f4c8875c473 CAID:CA343777244 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3165da14-aa99-4bac-8e07-88d93afaf9b4 CAID:CA343777244 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd01ff88-a2d6-487e-bb2e-04bf40ef258e CLINVAR:654211 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b83e632d-9214-4d84-935e-fe09c6284af6 CLINVAR:654211 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e34664-fe88-4357-9fb7-e2a2a4ede9a3 CLINVAR:18015 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dabc1c86-7756-4dbd-b757-c51fae15c9ce CLINVAR:18015 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a4ef9e0-6a05-4d49-9166-f5eb15ac7744 CLINVAR:870596 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee170500-4894-4ef8-88f4-ca23432a1cd8 CLINVAR:870596 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d132c28-1bdf-4dda-a55d-637013b3b5b3 CAID:CA1251327 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a623a6a0-5303-4236-a55d-2998ccbd3b45 CAID:CA1251327 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfcc62c4-b9f9-4280-9013-e922a13cc43d CLINVAR:811513 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92f42ce1-33a6-4a80-925b-edbf33977783 CLINVAR:811513 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b866bf70-8a2a-42ee-aa6f-99f8d913ce6c CLINVAR:699299 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a815d500-ef5e-4341-8df1-73eb8b4a9f26 CLINVAR:699299 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29551db-745a-4343-a862-e3bed9025d14 CAID:CA414447224 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a98ac92-9d72-43c2-b9b3-79b6d7ced2cb CAID:CA414447224 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a1970b6-d55c-43ed-a3cd-5bbee1cf0a43 CLINVAR:9211 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4b1594b-2f77-4685-a9d1-bd423ab09928 CLINVAR:9211 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 468dcc90-87cf-47cb-b7ad-6ba3c5000159 CLINVAR:972784 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa2fb9d3-60cf-4f07-b6fb-b49a912c3490 CLINVAR:972784 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c865f08-24b3-4f8c-9ca3-5cadfb713435 CLINVAR:586016 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c11b8564-f226-4107-ac6f-4a4727266e2e CLINVAR:586016 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fb8696c-e321-4b6d-9f53-2d556ae26962 CLINVAR:549554 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 634aa2ea-b2e3-4767-87cb-dfda987096ae CLINVAR:549554 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2370420-fb75-48e3-a2dc-ad9b2fb771b5 CLINVAR:435437 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a85f8ef0-994d-4878-9d18-a24ca58b359c CLINVAR:435437 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a942d54-38df-4b28-b6bf-1e546b4b3caa CLINVAR:493321 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 534cb444-2ee1-4588-aa9d-53e08016acab CLINVAR:493321 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b4d25d3-9d89-44c6-8683-8983994d66b7 CLINVAR:520675 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 507983e7-1a0f-4245-b08a-c350e915cfc8 CLINVAR:520675 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de119361-2da7-4c63-a533-08520bc315cc CLINVAR:488999 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 299eda03-3d25-4b6f-b786-9c2392b98bad CLINVAR:488999 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45a8a235-67a1-4e41-ab1b-ba565f5bbe6a CLINVAR:36354 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80d4d8b9-d987-4a48-8223-0c974d451899 CLINVAR:36354 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 581f4a64-9a1d-4433-ba25-17dc6ea0e043 CAID:CA409106173 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36aad5dc-d723-4552-be3f-95bd0d17af10 CAID:CA409106173 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f05eff3b-3e23-4d28-b10e-66a32a26171d CLINVAR:2580600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79699127-eb99-4d3f-a560-8db4aff70e66 CLINVAR:2580600 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d5e2264-7c8d-4026-87fa-e0b3d4fc2766 CAID:CA409106718 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e16dac48-1446-4105-afde-bd44f486b0fb CAID:CA409106718 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 704dcbfd-f4d6-49e0-af01-6ae863050a4d CLINVAR:36355 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 237dd144-d787-42ed-9cc9-910b07d6d1b6 CLINVAR:36355 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cde0bf9-65a1-45df-8fee-5e9a844e4009 CAID:CA409106789 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00b7cde2-2e70-4983-a013-0cd02a60f20b CAID:CA409106789 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29d0a3c4-d6d6-48ae-8d13-aec11256fbc3 CAID:CA409106859 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7c1bae1-cffd-4d9b-a971-6648f9df1c59 CAID:CA409106859 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 809b4275-865f-4d40-84b3-2145cb49877a CLINVAR:397578 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0f28d5f-1995-450e-b2e5-d409fb3db9b2 CLINVAR:397578 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a20130f8-5835-4773-8a7b-4737d670ba71 CAID:CA409106952 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33c577b5-fb2c-4647-9dc0-af05714a34c3 CAID:CA409106952 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e185fc5f-31a0-437c-b78d-f53cdd9c959b CAID:CA409106961 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0eea6ef2-3dd3-4c15-aeab-181af6b4f3e7 CAID:CA409106961 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc35841f-72ed-46de-a096-4bb54864e8a6 CLINVAR:586020 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0fab45b-e214-4675-8097-644b5998e3da CLINVAR:586020 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03c62cb5-9508-4dd2-b40a-23f3bc97db4f CLINVAR:1186689 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 367381df-8713-498e-840e-70197a1ad02d CLINVAR:1186689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9f2e7a4-1a07-468a-811b-08fba20dd269 CLINVAR:447520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e0dec08-c5f6-43ca-93d4-8aa33a227f74 CLINVAR:447520 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e80170e-408f-4487-a7b8-965d8b9d2e70 CAID:CA409107446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb53b5b9-ddb7-4492-8ab4-6646a3c0a4b3 CAID:CA409107446 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fcd5bf6-de21-4b0c-a4c8-7c8174398cff CLINVAR:870344 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b2a7cfd-54df-4088-a230-ad846e4619c4 CLINVAR:870344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd573cc6-e67c-425b-b7ed-b8c958f8d1bb CLINVAR:36720 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c3ebe4d-c027-46dd-9f33-524bd7c4ef8a CLINVAR:36720 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a4126ab-55ec-43f5-9dde-33f6907a9aaf CLINVAR:2163677 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9504f59f-2f42-464e-9d3b-be23e8a8db42 CLINVAR:2163677 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03516479-ec72-4d27-92dc-31325caba848 CLINVAR:36716 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9c2f152-bd02-4307-b406-8cc796c932b4 CLINVAR:36716 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34eff83d-00b3-4769-9a58-6443e67840bc CLINVAR:857069 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d52bbb7f-9ca6-4442-a964-681634e55825 CLINVAR:857069 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8df96077-1df4-45d8-b47b-9043076bb8e3 CLINVAR:281042 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31ed6338-15ac-4ded-b026-18e58a638010 CLINVAR:281042 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d61566f-bbbb-4afd-92be-02e7813eb392 CLINVAR:370886 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 935a133c-f9ed-4555-93ec-d15a81ae9744 CLINVAR:370886 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80d6a925-f249-4a86-83ae-7c1c4751b7a9 CLINVAR:932843 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ef64dc3-8bd9-460a-8c16-33aa80ddea6c CLINVAR:932843 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a600ab0d-ccdd-4134-b785-7216ed3f7128 CLINVAR:557676 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 242558af-d937-49ce-a1b8-923314e60141 CLINVAR:557676 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e67eb35-e737-4404-b68c-de1aab504eb7 CLINVAR:21024 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90dbc5b2-c441-4a44-b8a8-9fe8886b2827 CLINVAR:21024 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d555b1fb-b0bc-4584-93a9-d4410e9b3ad6 CLINVAR:197662 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad0dc82e-bab8-43cc-8323-8bec883e0e15 CLINVAR:197662 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5836e48b-8199-491e-a9d5-6dddbf79d833 CAID:CA415086302 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afe2d2f2-a963-49e1-b0f7-d5262545a2e2 CAID:CA415086302 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c46b029d-80df-48c9-87f7-de132d384ff9 CAID:CA4239423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62c0e368-6fd8-4263-a6a3-f9e21136c9cd CAID:CA4239423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e275cc-004e-48e8-b394-3164745648d5 CLINVAR:983782 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16f19de5-4e2f-4814-a09c-de5a1ccacb3d CLINVAR:983782 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24b28c46-f864-45cb-8b02-ed4fbf9890d4 CLINVAR:983781 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02b9f757-89b9-4d1b-bc4a-6a9a93a26bcf CLINVAR:983781 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f1ade7c-b54b-4e9b-a21e-5a8ea877752d CLINVAR:636917 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a0241796-d8cc-4809-acc8-a32403e31e91 CLINVAR:636917 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b364357a-e6b8-498b-9710-f4b525f3cef8 CLINVAR:1323112 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fae0ab74-95cb-4355-b64d-586d8b3d305a CLINVAR:1323112 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbd9ca16-90c7-4a84-af10-c37190fbecb1 CLINVAR:418451 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e079234e-eb5a-47bd-9cda-881bece86357 CLINVAR:418451 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45824b65-e1cb-433c-b2b9-1314f0a91d71 CLINVAR:496900 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9dc376b-2d8d-4f64-9d08-e18cafdfbc09 CLINVAR:496900 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 398be599-53a8-4b26-939d-64120cc6d166 CLINVAR:450358 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 217e2cbc-d117-4dc0-a621-b90b259d92e7 CLINVAR:450358 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d738c2d-47eb-4cf8-aaa1-a54539d6e455 CLINVAR:280954 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef10d572-9cae-48b3-98b1-a41ebdec27b2 CLINVAR:280954 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4a47b26-7da9-4114-9e90-2d8e76fc202f CLINVAR:928930 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e526a36d-2dbc-4e03-9325-8e471cef8082 CLINVAR:928930 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbdbed86-9157-4da9-8d79-430a9891d764 CLINVAR:285197 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32cc9628-e889-40dc-86fe-5f83eafd81cf CLINVAR:285197 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f7ea7cf-8fc7-4fc7-b370-17ae158129a2 CLINVAR:4023 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 800ddd55-1f39-4f40-8c25-799beec3bb77 CLINVAR:4023 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b74c000-cacb-48f5-a607-eb198c638d77 CAID:CA400029324 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 511d78d5-38a9-4d74-b626-846712909a28 CAID:CA400029324 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08263db9-c87d-419c-b6c2-473311fe4e53 CLINVAR:1803282 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e787559-58e4-49de-bbee-698117ac49cb CLINVAR:1803282 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d5901db-ebf2-4eb9-a245-be520484f773 CAID:CA2759533408 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b14dd57-bcba-485e-9d47-db804c32fb15 CAID:CA2759533408 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6900bdb8-3a03-4a10-8f4a-a2b0dfd3606e CAID:CA2759533407 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dceb5440-af20-4108-a3a8-ebedd3e41c4c CAID:CA2759533407 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1302fcb-ad9a-48ae-afaa-a7b106e93842 CAID:CA8603562 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb2c22a5-a1e8-493b-9024-e2d25af23270 CAID:CA8603562 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c3697c6-d651-49a8-8b68-aa690335ece2 CAID:CA8623258 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28052b8d-7116-44df-a1b2-71271dd13476 CAID:CA8623258 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d3a7ad9-5808-4517-8615-2192c3c064ce CAID:CA8622981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e6da735b-fd6b-480e-83ae-f792b5c04ace CAID:CA8622981 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd7c55bb-d108-4665-9561-c93571e5426d CLINVAR:627098 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 276f7404-4dd1-42f0-96ad-1f7e734d49a6 CLINVAR:627098 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5160bdb-c6e3-471c-9515-473bef2cc395 CAID:CA367401570 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c4a03f8-a309-4d50-8274-8a4a695124d8 CAID:CA367401570 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deb6e892-3c43-4e98-8823-fbba609b14a3 CAID:CA367401572 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99998bb5-2086-4c24-8ca4-d996e3805ec2 CAID:CA367401572 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6473de9e-b7a7-4a0b-972e-08308f6da5a7 CAID:CA2740099755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a763004e-7244-4409-bf36-9d46fe478096 CAID:CA2740099755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d597a30f-4059-4c67-ac81-b6ecd482aa07 CLINVAR:1700671 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8e2c30c-8a67-4330-9f80-9e7837b2501b CLINVAR:1700671 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45124900-7a38-4a81-bc19-0705eaae400e CLINVAR:994548 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d87fb9d3-1a82-4675-a43a-b5412d96ff05 CLINVAR:994548 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08cf0722-a5c3-4813-a2a9-e939818cf7cd CAID:CA386959402 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2955e95c-9297-41d5-a23d-391fa96c58e2 CAID:CA386959402 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf66172-a763-4f25-a1d7-ea325156e1db CAID:CA386959427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80a54e5f-7433-437c-bfc0-d8a37b76a8ab CAID:CA386959427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1bfeefd-c18b-4ba4-813d-61ed02932f0a CAID:CA386959458 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b55b726-ddd2-4f56-9f97-db55f9b8651c CAID:CA386959458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f8331dd-6faa-4357-9fc0-4101566fc891 CAID:CA386959470 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f1a4255-e30c-4c89-9a3a-56e794524ac2 CAID:CA386959470 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab36271a-df09-41c2-80bb-d4341125b20c CAID:CA386959497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60bb6f64-c111-430f-87da-9ec0acf6e015 CAID:CA386959497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acda3da4-6895-4564-b8fb-05594ff02e6d CAID:CA386964629 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 56123280-7eac-40da-9e04-64f2044765fd CAID:CA386964629 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7e0e182-17c0-44a6-bf22-fc03856749e2 CAID:CA386964662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3c0a96c-0295-4e40-834d-69fa12099d51 CAID:CA386964662 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cea8e479-be93-4633-8680-5eb1da6e1ef7 CLINVAR:2916089 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6b1cbb7-147b-41ff-b7e4-11f42df1b08c CLINVAR:2916089 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d801ada5-cb0b-40a8-86b1-c50aae0024c6 CAID:CA409109837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 104ab115-69c9-4d25-91fb-24e6946e3db8 CAID:CA409109837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22799807-e98d-4462-ae0a-f592fefa21ac CAID:CA409109839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd292206-b298-47d5-8e46-b2d578878e45 CAID:CA409109839 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d843fe2b-6d35-4606-981c-01b6032beb65 CAID:CA409103677 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc5df36e-95b4-4e74-9c0e-f5b9c892bb09 CAID:CA409103677 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe28f90e-59e1-484e-98e8-0fd27730521c CLINVAR:967164 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16f65b61-035f-4f8b-afa5-c140fb6539d1 CLINVAR:967164 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 938c0f54-71b8-41e0-bb9c-87f45c49f806 CLINVAR:841399 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8d5112b-90ac-46f5-87ee-6b7be8d8da7f CLINVAR:841399 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b1c16f-0a99-4cba-8ecc-9beabbf3c6ec CLINVAR:835256 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6637fdda-2f0a-49c5-ae5d-4ace87a15c6b CLINVAR:835256 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 151f0451-4567-4453-8c39-311d7110269d CLINVAR:2050660 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba41f50f-a24d-4257-8ae7-f2cde2f84f28 CLINVAR:2050660 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9ace755-a4d0-4b6d-be24-f5497c8a72a3 CLINVAR:573475 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e2e225c-ffbb-4c46-87e9-7531e4cadef5 CLINVAR:573475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a233a44-12b4-4344-a6c9-09f7ef67dd48 CLINVAR:940774 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8dd7759-3e9e-409c-8a89-108f5e6816f3 CLINVAR:940774 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b2617d3-e638-4fa9-95a8-f1ac51dbaee6 CLINVAR:11703 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86e7dc3c-4d2d-433a-a900-6a323322dcb4 CLINVAR:11703 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abc53ffa-7a0c-4010-9139-e7811e504115 CAID:CA2582129988 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2322f87-e336-464e-8608-8d147ebeb2c8 CAID:CA2582129988 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 906bf357-130d-46ae-b032-3399f9eee442 CAID:CA415079038 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65678293-025c-4d9e-931f-6d5165ccd228 CAID:CA415079038 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 973fb097-5d85-4f59-9c21-83740056a41e CAID:CA2582115911 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen baa33146-4e39-4236-ade9-bfb2c27373b9 CAID:CA2582115911 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d64878f0-1e54-438f-a298-cd48758fab3c CAID:CA10549330 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2650f4d-8360-4a71-bce5-7dceb05a48f1 CAID:CA10549330 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0efe072-debc-49b4-9e2e-31305c5f7a33 CAID:CA10549339 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04d0d921-76ef-4712-a5d1-100111d6b4eb CAID:CA10549339 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4870b4c-be7a-4548-9f4e-e351c957786d CAID:CA10549367 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 812fc872-c8f8-4e86-91f4-2c4a1be63524 CAID:CA10549367 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37908bf7-8b84-485b-8881-867456da21e3 CAID:CA415080522 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03ba1ee7-7888-437d-886b-cafc2800ea2e CAID:CA415080522 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bd01f36-a89c-455c-a283-d63c8997c293 CLINVAR:410218 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5c78641d-bd7b-488e-95dc-ceae9964b15d CLINVAR:410218 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a67514d-8511-4e01-a9bd-3e604cad7310 CLINVAR:488696 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff9f72dc-2027-4896-884f-9c8132b81059 CLINVAR:488696 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8497dff-9e1f-4710-a0dc-359b223425ae CLINVAR:1066149 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9588038f-6edd-4038-8ee8-defc40642ad1 CLINVAR:1066149 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 090a2cbb-5db5-4412-a6f2-1df081a877b6 CLINVAR:1305363 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17e2167f-171b-4987-a8ad-dab0a1c85deb CLINVAR:1305363 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a223c53-be4b-44ec-8b16-400e4da1b64a CLINVAR:633275 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8de2d749-71b5-4e4e-a019-bf2cd21e4226 CLINVAR:633275 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 003768c4-b99e-4349-bc79-048366f78ddd CLINVAR:1677132 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4c14964-167f-4f6c-ab10-d7fdd14a0a9e CLINVAR:1677132 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60fd2299-2a68-4ee3-9d57-bb37fbaa41fd CLINVAR:9363 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29e5e506-e637-407b-9a87-51ba232a0c58 CLINVAR:9363 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f9199b5-cf99-4e43-b1b5-cb7cd33575f3 CLINVAR:9364 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9403758-23bc-4ed7-850b-db7da06de8b3 CLINVAR:9364 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b08f9de1-0a13-41b9-b21d-6fc1e83639b0 CLINVAR:1708141 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9669230d-0e7d-4077-9eca-2819f05230ad CLINVAR:1708141 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62bc3516-ee9e-42ae-b807-ec9702b33d45 CLINVAR:968126 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aac7e4d7-3ea1-42f3-90c3-f16dc15201ad CLINVAR:968126 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59bc6119-e0a8-430c-af19-d65de7a08272 CLINVAR:653423 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e20c229b-62c5-4a5b-b43b-74374a84715f CLINVAR:653423 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbfae3cc-04a5-4672-bedf-9026fea43b5a CLINVAR:646928 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6443dde-f4fa-43b1-baa2-6f871b0fd131 CLINVAR:646928 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bcbb058-67bb-4c9e-895e-41544e115f03 CLINVAR:576525 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fceef13d-0031-4703-b23f-b75ec6e9749e CLINVAR:576525 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84873a07-2ea9-41be-a3a7-5dc77d27067c CLINVAR:647111 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1880366e-51a5-4a57-b20d-b3ea1b89ec97 CLINVAR:647111 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25e282dc-5bfa-461d-bce9-c5a7330ae8ce CLINVAR:1022921 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 103c2ed1-6b7c-4452-a14e-5069db5668fc CLINVAR:1022921 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ecfdcc5-10b9-47ae-a13d-982aebee1f49 CLINVAR:299320 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d4a8013-4416-4ffd-883d-d38b2c4fc344 CLINVAR:299320 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76f93155-94cd-4cec-be9e-bcc76dc9892e CLINVAR:1042451 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c90ba995-6536-4d8c-9b68-3509faa6faf4 CLINVAR:1042451 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b36556fe-d767-4dd0-8642-5564589f117e CLINVAR:288327 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7cee19a-94a1-4cad-a958-66842f6c86ca CLINVAR:288327 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e1920b-f6a0-4253-bb9b-36dca9926a7a CLINVAR:1965651 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d20bfe62-a8c7-4269-aa56-021cc58ce2b8 CLINVAR:1965651 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5eda567-63db-447b-a159-9141ee015b23 CLINVAR:666119 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e295f9ef-c055-4d09-81cd-d4a833cd5044 CLINVAR:666119 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63808e2b-7d09-4e5d-b71f-9128527c3f52 CLINVAR:879948 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a13ebb9-4257-4a89-aaa7-9923211ebc88 CLINVAR:879948 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e75a7c0-a388-4878-88ed-d71bda339ce6 CLINVAR:1511542 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79ab708f-1c52-4baf-9449-58ebd3eb852e CLINVAR:1511542 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d7f66ee-d8df-456c-82a6-bf648beec818 CLINVAR:1013704 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32c2ae07-dea4-45da-9e77-f68a6fe6924e CLINVAR:1013704 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f678232c-c62a-4574-a727-4025308cc07f CLINVAR:879949 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea0f113f-cbc4-4e57-8243-5ed3683de5f7 CLINVAR:879949 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e9adcc9-43e4-46b2-993b-28fa07ec362b CLINVAR:1514295 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44a952d2-495a-4f83-90bd-b27e5e7b8d8e CLINVAR:1514295 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78f7b971-6a47-4d44-8d1b-0a525ede5e3b CLINVAR:648065 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 250813da-3e30-4712-9dac-60914eba5d8f CLINVAR:648065 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e61ad9-4ed6-4cab-9ab1-5bcb5818f208 CLINVAR:1144398 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7da4a06d-e291-4620-9ac8-68f3e9b82930 CLINVAR:1144398 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11149bf-3a69-4d52-9587-2da96158eaee CLINVAR:418656 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e00d61ca-6e8f-40f2-9ca2-a2d4a9af3c94 CLINVAR:418656 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0853e84-fb6a-473e-b53b-79505bf8cd6b CLINVAR:2138599 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a56bd58-d339-417d-8d45-ab70ed263ef0 CLINVAR:2138599 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e416bb8-3f2a-41a3-81a4-ca08cf944d83 CLINVAR:1507904 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3143ff7-1330-45ff-b1e3-4d9d5e7c35db CLINVAR:1507904 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6898aae7-0dbe-4f64-840e-33ca29e12f57 CLINVAR:1411137 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7414b8a4-8ed0-4025-a3ea-7f659367c9c1 CLINVAR:1411137 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09bd6093-2b0d-4281-a71f-1b69b93a4768 CLINVAR:463384 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56c36055-7b7b-4981-b4d8-00033af1972a CLINVAR:463384 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80b4bafb-bf80-47ca-83f0-5d947ec70ac0 CLINVAR:36388 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d98bead1-deda-422f-822a-5e31d81bcb33 CLINVAR:36388 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f44eba5d-c0c6-4640-9026-99bd2453025c CLINVAR:503682 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 310fda0b-7d7b-4528-8f76-3c182328f8f4 CLINVAR:503682 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 675b58ca-522b-4eb3-b607-7a3d03cb8cb4 CLINVAR:1172577 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27fcbb7e-d5fe-4e99-90e3-6f769ccdb987 CLINVAR:1172577 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8fd684c-9b2a-4bee-b75d-92a6b2669792 CLINVAR:1066837 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22fca59c-4385-4207-af70-7de65424b9c4 CLINVAR:1066837 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf02b918-a057-41f8-b645-96e8148e13ed CLINVAR:463378 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 865db086-f03f-4dad-bbb0-e8a97039f84b CLINVAR:463378 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e67973bc-0dbf-493e-a171-bedc2440323a CLINVAR:624606 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97df7a26-af21-4ae5-8cc6-aacb5be3802e CLINVAR:624606 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0953b2d7-d76d-423a-88b5-91d01eeaef82 CLINVAR:955439 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e69639bc-69ac-4d87-9bc6-bb289d8f4e89 CLINVAR:955439 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0689d88-9820-4499-813f-1b76974b6837 CLINVAR:449383 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 739ad5e1-f8fb-42e5-998c-38795ab33be7 CLINVAR:449383 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4cd5d50-80ad-4b6c-a069-c03404929210 CLINVAR:353268 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e886749-0aad-460e-af90-5119bf09a86f CLINVAR:353268 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 773a689c-afee-4935-8e5d-a11960517da5 CLINVAR:418257 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ab77f81-af51-4897-94a0-22a82908360a CLINVAR:418257 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf248840-4541-491c-9564-5eefb70c1bb7 CLINVAR:1393864 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c14dce6-07fe-4476-a4be-159fd5f18a35 CLINVAR:1393864 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ea178b0-7d45-4f8c-8749-2a692bec545c CLINVAR:555727 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7c5f35c-3c95-4902-8701-9116e0316f89 CLINVAR:555727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ca4f545-a1ae-438e-813b-50877d5350b9 CLINVAR:1901446 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e59766d-ddf5-4ca2-b414-074fe8c88e83 CLINVAR:1901446 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0565154-a3ec-4147-be99-0a15d4f1ba39 CLINVAR:444650 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3725dffa-f310-4301-8da6-3bb9d12137fb CLINVAR:444650 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5558e2e8-45e4-4440-ad85-2c1f5bf19c1f CLINVAR:1068066 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08248090-ca23-4d89-bdc9-6f9f6b4074dc CLINVAR:1068066 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29a7cd7-ab9f-4593-af3e-0a5eb8bbb47f CAID:CA1139771069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b9be1b4-427a-4502-ab10-79d97908cb1c CAID:CA1139771069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c2202f5-4f29-4b1b-b86b-333fd4e0b112 CAID:CA1139771060 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ed3e812-7e67-4d08-abe2-f06473104b70 CAID:CA1139771060 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca0c15f9-820d-4b77-91fb-6f8dd06d8f3e CLINVAR:2820100 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b77de332-45cd-42b7-a64e-f293659d59aa CLINVAR:2820100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e364ee1-7a1e-416e-b4e7-5eccaaa73b51 CLINVAR:1710503 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f3981ee-d316-4b77-9a14-912d5a66c43b CLINVAR:1710503 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aa7bf22-7d2e-4e9d-9ccf-1923df5f7c0d CLINVAR:1484777 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70384038-2e4e-4476-a2fd-1a3fe796bcb2 CLINVAR:1484777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 650b19cb-1b36-4e50-8164-bc5c00082ae0 CAID:CA2695237935 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 412222df-d6c0-4886-8011-245bcb8af419 CAID:CA2695237935 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9b8ef73-9ce5-450c-ac12-f77662121f40 CLINVAR:561109 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1a5c0bc-f787-47a0-af7a-0d2d15e73ffe CLINVAR:561109 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa5569ba-7c98-4049-8497-4d785ceef3a1 CAID:CA415086032 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 407352b6-c014-4ea4-9536-68ccd9eb7cfe CAID:CA415086032 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa8ae240-3f91-4484-8ed6-1a370d79c515 CAID:CA2579916736 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7a0214a-7593-46de-bb64-f34c188c5327 CAID:CA2579916736 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9621add-0798-48e1-bcde-5d916a246d6a CLINVAR:428806 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b642a41-7f1c-4d1f-8334-68242daeaa3d CLINVAR:428806 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6c227e-e411-4c52-8732-feef306d332a CLINVAR:223171 biolink:associated_with_increased_likelihood_of MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00552463-15f6-44b6-8389-18f87a7b5a32 CLINVAR:223171 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e27813f9-7141-4f67-bf31-f8e9fc519845 CLINVAR:526679 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fe1f4d2-4d73-49cc-80fe-ff8f379cba99 CLINVAR:526679 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b266287-9214-4867-a8d7-12bbeb9f45ac CLINVAR:526673 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49eec041-14dd-4463-833a-0b2d8aec4008 CLINVAR:526673 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc39a816-a2c4-4431-b9bf-590ce250f7e8 CLINVAR:43597 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67a73ab7-7362-41a4-99fe-64e23bc908e1 CLINVAR:43597 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d4ab4f2-83b4-46d9-93b2-c197432da49d CLINVAR:560745 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 868dbd78-9114-4ffc-9268-bf0485e00735 CLINVAR:560745 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2b5b43b-c81e-4bcd-8c58-7bf77d74d04c CLINVAR:2225 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8b27653-11d1-40c0-b184-4dc88741bf89 CLINVAR:2225 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bca7c11-5f4a-4c13-a980-2aedf4fc7ce9 CLINVAR:440404 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d09f82ec-39a3-41ee-a900-b5fa3dbd7888 CLINVAR:440404 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 734129a9-397e-4976-96f1-f77ceb858ca8 CLINVAR:196284 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a5c6499-d76a-46a1-a10b-6b589ad6bf6a CLINVAR:196284 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a936e0-f219-40b2-9e85-f8d9208f063e CLINVAR:428794 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8a01ba4-7f3b-4177-a8e8-a72d60817c64 CLINVAR:428794 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68ab65d3-082a-4d1b-aaee-c603d91d7306 CLINVAR:2216 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ed14c7a-bab1-4d04-8d01-1b3e5e59c0ff CLINVAR:2216 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8d1a43a-0871-4d76-bdfa-681c10c0c031 CLINVAR:182959 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fe1f3e2b-88be-4353-bbc1-160e8772bad5 CLINVAR:182959 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f8e9520-23eb-4104-a1bc-f6e10a89e902 CLINVAR:411979 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d48f51fd-d76f-4f8b-bd48-2edfa0631b99 CLINVAR:411979 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0f77a4-8893-4d70-bb14-7ab5c8b370d8 CLINVAR:43601 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9402e39b-6e4a-43bd-9f2f-1578a6f772d5 CLINVAR:43601 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1440445b-be68-4748-b64e-028352afdf23 CLINVAR:141044 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7917b8d6-5d1d-4ff9-90a6-4da6e742bbb7 CLINVAR:141044 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78e6a0b2-22c9-4a37-8e29-47b65b086a5c CLINVAR:223194 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b166828-7a12-42a5-b788-705fe496e78f CLINVAR:223194 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ffc375b-66d6-4158-bbb9-5850265733f8 CLINVAR:411994 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3b14710-ddba-4eea-998c-03ea9f1a98d0 CLINVAR:411994 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b41acab-5760-403b-81d9-abc797e340e8 CLINVAR:411978 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2394bde-7849-4cee-8020-af85e45d8b4a CLINVAR:411978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01839760-1d14-4624-84e5-a9c7eef4e8c1 CLINVAR:182977 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8ab6bb5-8baa-451f-8bf8-3785d423953d CLINVAR:182977 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf331ec-5c6c-48a0-8d7d-0327dd372a71 CLINVAR:93326 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4615b2af-c3e1-4f18-b6b9-b1f4a0593a9c CLINVAR:93326 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b080cab-d763-44c1-a921-c43423027719 CLINVAR:941841 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d470efb8-942b-4b96-b413-d679aa7b5b81 CLINVAR:941841 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7032a3f2-54fb-4379-9702-e960b9fb050e CLINVAR:655729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f95b0fce-5241-4013-b312-fd84d7bad9e4 CLINVAR:655729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 551b81a3-005f-4713-b3fa-dec0b1ddeeba CLINVAR:378124 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14c0f8c5-b27a-4b08-a3f6-1113001d06e9 CLINVAR:378124 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbcff62c-38db-4170-859c-3da4dfd61a53 CAID:CA2582115078 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae64d14c-83ed-4f36-a103-3e984518e0d8 CAID:CA2582115078 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee2e1697-8649-4bbd-b280-8a49bc68185d CLINVAR:1391239 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d12da26-073d-4ed9-81a3-cd480fd067ee CLINVAR:1391239 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 001831c0-1298-4da7-965c-6e7cf6e480c3 CLINVAR:1334161 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5367bb18-3024-4d77-9eba-2b8258e9ea10 CLINVAR:1334161 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86f81b96-e6a6-4121-96fe-045c4c20f32d CLINVAR:438620 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a4f53d0-8022-4f9a-b006-9f44afd6ee19 CLINVAR:438620 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f839edc-b2d1-4b2e-9959-c48475fa64ca CLINVAR:18009 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 722cf584-ebd9-4caf-a23b-1578fb1cf296 CLINVAR:18009 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eee1bfeb-0b5b-4837-acd7-2e7607340025 CLINVAR:876602 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2eb2c859-c222-4332-ae69-a7a486820ec9 CLINVAR:876602 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edbf5851-20db-41fe-9720-695d21c1456f CLINVAR:1301540 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 661d08b2-ac17-4fb7-8659-2fa95802f689 CLINVAR:1301540 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19de343e-3cbf-4cf9-a4b5-614a6be91a71 CLINVAR:627341 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8adde62-e7f4-486b-a833-e2a3e308f40e CLINVAR:627341 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00fb1479-7785-4346-824e-0622894bdc80 CLINVAR:661606 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3f6a9cf-35e0-4820-9b58-e074964c9a17 CLINVAR:661606 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c83b49ba-9233-4839-9f1a-ab96cd4d6286 CLINVAR:18030 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a26748d-3aae-43f7-83ac-59a8fce4b9cf CLINVAR:18030 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2024edc-fe07-419e-a07b-e4dded3bf726 CLINVAR:2267274 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82c84f0b-7c63-42fc-a49e-26328b7f14e1 CLINVAR:2267274 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b7836d9-4921-45fd-81d7-9367cff2a012 CLINVAR:940768 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bd386d8-994f-4886-9e27-1faa4f0cea30 CLINVAR:940768 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86adcf0c-3ee4-4d84-8238-e5caad54e034 CLINVAR:293841 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea84534b-791e-413f-b63b-5dea2d8ce493 CLINVAR:293841 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 472c0715-94de-4e0a-b5bc-328a865a82fe CAID:CA367402543 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 384394b1-d696-465d-878a-40c1f7c95813 CAID:CA367402543 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ccee9ea-de51-4eda-b0be-85692e332017 CLINVAR:3358853 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48948c2d-cdf8-4ec3-bdbb-60fb363856e5 CLINVAR:3358853 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67fc2590-cfd7-4db3-8ab7-f24e73d87708 CLINVAR:993916 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4263e57b-f4f4-43ef-acd7-3e25968270eb CLINVAR:993916 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d923840b-9dd5-4bf2-880f-bb54dbfde597 CLINVAR:10253 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95145d8b-72b6-4e04-b6e2-d5a0f203b518 CLINVAR:10253 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 662d6335-475f-4c09-8183-5e34fb3626fb CLINVAR:10236 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab4fdced-35b0-4230-8632-232c8a5e5b3b CLINVAR:10236 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11fce4d1-1b9c-46a1-b47d-7cd20fdc3790 CLINVAR:2775446 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d5d86b9-652f-44f3-b0cc-822048def618 CLINVAR:2775446 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04f4b65f-94e6-4a8d-9fe7-7a9492cf31f7 CAID:CA414916097 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8a88924-5b97-4ec1-b88a-d363dd67ce00 CAID:CA414916097 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d560493-faea-4811-b81b-67aa08a02b70 CLINVAR:10208 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4100323a-f552-4165-b380-7244c5a6554d CLINVAR:10208 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1fb94f2-4602-451a-881b-85ef0f0495d4 CLINVAR:10195 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22b9b44a-bd06-4c11-a0e2-6be0231cbae4 CLINVAR:10195 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26783528-50b1-4fb0-8d6f-e884e7bbd0af CAID:CA414896830 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 00e54e9d-57b8-460b-9e78-5ca98d692d95 CAID:CA414896830 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51899b71-751d-4a5e-a430-f1949e6894a3 CLINVAR:10085 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a2adeac-4110-4e16-908e-9662a670c689 CLINVAR:10085 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4fd6cff-b69a-4bd5-9ebf-b1d298b2ac96 CAID:CA414447210 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5b92795-e004-4531-9537-a6880895422d CAID:CA414447210 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd77ba6-42ec-45f1-9e88-7d62455a4a3b CAID:CA414447212 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1d565d1-5fdb-402f-bc64-de3bec9a5c3f CAID:CA414447212 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 275e969d-2515-4781-9623-04e533a2cdbc CAID:CA414447216 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2758086e-0f4d-4e47-997e-0079b5537f48 CAID:CA414447216 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa806707-8dd4-4847-a94e-8a5f1ce3092e CLINVAR:811512 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d099db38-db29-4d27-988b-4947e91dcb9b CLINVAR:811512 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f5ae24e-8382-4f97-a383-fb81643d0c07 CAID:CA414915809 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe564d5e-06c9-4d6e-9d44-c0accc03fdb7 CAID:CA414915809 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4481158c-2f1c-40d1-9bf3-0af6637ce550 CAID:CA414447354 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c69b5b2-af2d-4ae8-8768-f0dc77c13386 CAID:CA414447354 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2daaaf0f-9c77-465f-a9cf-e9a2bac7119f CAID:CA414447351 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69373e1e-1656-4c29-add8-a836d074eb9c CAID:CA414447351 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf0c95e4-dbee-4579-b2cc-aa36310f08fc CAID:CA414446711 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ef3d26f-7b79-4a1d-89b0-d8290f5612a7 CAID:CA414446711 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9721e5cb-0aba-47b6-8064-2d9fc2c16614 CLINVAR:651569 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8334a8f1-388c-413a-860b-0151a4027415 CLINVAR:651569 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89e7c34a-d4ab-467e-a005-fe2cbca6d3a4 CAID:CA414445371 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen baa37aa9-65c2-4e61-80bb-c56fa50a80d1 CAID:CA414445371 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75407b5c-2e85-4791-82c9-f87f4541fbbc CLINVAR:626950 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df951c9c-25f6-43d0-817a-ade289d06ee2 CLINVAR:626950 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 506846a4-0e50-4d02-b1d6-8dcf7f4c4634 CAID:CA414447533 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d92475b4-b552-4779-8861-5f258d8caa4a CAID:CA414447533 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d87ac593-d3f5-443a-82bc-2232c6390a29 CLINVAR:10587 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 004dddfe-abbc-49bb-ab86-90d34d07c099 CLINVAR:10587 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42a9c4e1-d763-430a-aed3-7d596034ed7d CLINVAR:10585 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94cea548-5579-4250-a738-c7a75683fac7 CLINVAR:10585 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a2a841a-4461-4117-8527-f030e859dba6 CLINVAR:810867 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 581776c8-11cb-4e93-bd35-620958ce933a CLINVAR:810867 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18489ce2-f368-4640-ad74-863fdc2016ef CLINVAR:10572 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0422444f-cea1-4c71-b4b3-2272e85cc9ec CLINVAR:10572 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed73bc0-87bb-4927-89cd-991ad3896d5a CLINVAR:216926 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75633f3b-75df-4c9d-aede-fe8c6ba788b0 CLINVAR:216926 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c32e369-16c4-4df3-a61c-c06a07c0626e CLINVAR:10579 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9acd7e62-4dbd-4d66-bf21-b3d40d06ffd9 CLINVAR:10579 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8b272a5-cd53-4278-a55e-fb2a2664fa3c CLINVAR:2775451 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed22d309-40b9-40f0-b0b2-4f30b9fb5ae0 CLINVAR:2775451 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4b612da-6276-4ec3-b651-83a3284a897b CLINVAR:2775450 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1187c70-6fe5-4fa2-8f32-18457aaaf4ae CLINVAR:2775450 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22c1d8fe-3897-46ef-aea4-353f6886421d CLINVAR:627328 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a974556-004a-497d-b347-f2857d678859 CLINVAR:627328 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9686bdc-e8f2-4b1e-8108-fcec91647a28 CLINVAR:10256 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8175286f-784f-4b6d-bfdc-4be452c0e1f3 CLINVAR:10256 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc7eb0de-db14-48c6-b662-a46e347cef38 CLINVAR:10294 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bed5f366-dd51-48c7-ba2a-47fc1aea7004 CLINVAR:10294 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea68a13d-bdab-4cf3-beed-5ae551d04dc7 CLINVAR:10274 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66df68ae-dd6f-4bb7-8e5d-61b7176a8079 CLINVAR:10274 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96c588c0-09bc-45fe-8afb-6083f1da6785 CLINVAR:2775449 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e2ea989-3500-47c0-9925-4ea28e47c3f2 CLINVAR:2775449 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd838d9b-7f5c-48d7-b6af-7f1ce73fc4a1 CLINVAR:10232 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 320c512b-5838-43a6-9ae9-1fdcc69a5430 CLINVAR:10232 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0528586-6de1-4a19-8fff-cc9da84eb587 CLINVAR:10247 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae4b3d53-0464-4745-8955-80fe296ee553 CLINVAR:10247 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94ee01fb-c7c9-4fce-b4c5-412ce891abe1 CLINVAR:2775448 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5444b19e-87fc-4063-bf13-3dd6a019a41d CLINVAR:2775448 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a66eb72a-9451-4fab-8e3f-3f6bfec30e76 CLINVAR:10139 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64814b4c-5338-4fbd-bd28-78732a143e7f CLINVAR:10139 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70372ee2-5ed0-46d1-bf00-6daea7e6a114 CLINVAR:2775447 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a040cc6a-c606-4a6e-a056-fef2ca826dc5 CLINVAR:2775447 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df46349-4fca-498f-9b62-a20fe1f2fafd CLINVAR:10304 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e571fcf6-2cdc-48e8-8c64-099490f82f41 CLINVAR:10304 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8ec16ed-4bb7-4d6f-8160-092b93503278 CLINVAR:10327 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5abfb6a-c1d7-4529-961d-024218db4ace CLINVAR:10327 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80fe94be-dbe7-45fc-a072-fece7518fbc4 CLINVAR:2775445 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 95608eed-5771-4e79-b9cf-e6ee50f72885 CLINVAR:2775445 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c241585-903e-4eaf-a78e-d8a7dda2c1d1 CLINVAR:2775444 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12aa6ec7-1bb2-415a-a2a8-73434c982624 CLINVAR:2775444 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 306c4a34-2f10-4f25-893b-7b684baf9e88 CLINVAR:627165 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fef9bcc6-02d6-4bff-82de-7596ae001e31 CLINVAR:627165 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d2007bc-16bf-432d-a7ee-d747e08704de CLINVAR:449370 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9bf3b01-81eb-4555-a293-d8e02a668efe CLINVAR:449370 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8331b4ae-4ba4-4dc9-81d8-500918aef744 CLINVAR:618104 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 553b54c8-0c0e-4dce-9483-3ea3ea373cf7 CLINVAR:618104 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen accc1652-50c8-4e2b-afd8-caa1711af6d7 CLINVAR:10226 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4179362-5d21-4193-98f3-41bc4d97260b CLINVAR:10226 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0380b7b-f24a-4542-b0ce-4f0153766f5e CLINVAR:10225 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6dfd24dd-1851-4622-8f00-3cb84ac7afef CLINVAR:10225 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 827f9538-3fe1-4133-a073-cc5fe8a3ffb7 CLINVAR:2130981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbc44b9f-14be-4a5b-8119-541990452460 CLINVAR:2130981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe5fa1af-f333-4816-a64f-8641b52c0bd8 CLINVAR:580214 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c7b8de8-22a2-4ccc-910f-66fa80847497 CLINVAR:580214 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f316ec45-93b9-4907-b568-508703e3c6a2 CLINVAR:843571 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 100e4404-3c51-4fc5-af25-84fa0b85aa6f CLINVAR:843571 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5067ce07-14f2-4e4d-bfc1-e104fcd8cee8 CLINVAR:1692640 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bdf4d58-1b30-4645-a405-1ea8a435c0b2 CLINVAR:1692640 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eecebdd6-7373-4181-b930-75edd3da3d56 CLINVAR:948047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1600b23d-c3cb-4700-9315-830e5ba84880 CLINVAR:948047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f926ad54-6acf-43b2-9566-60e65dc21b76 CLINVAR:1053850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbf8f6a6-7286-4dfd-ad23-a595036aade5 CLINVAR:1053850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aa029ce-a98e-4a5d-a959-28db23c0a276 CLINVAR:837414 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 085c9e83-9b7d-402f-85c0-9f6973a8a8f6 CLINVAR:837414 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 787a23c4-ecd7-446a-a897-b3b54bc4bd88 CLINVAR:1424427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1de2cc82-70fe-4334-b3e9-c7e71b8a9370 CLINVAR:1424427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0f73a06-be2c-4839-b5ae-080af7f518eb CLINVAR:2435493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac3eb910-8cb0-4c51-88e4-00dbe653ab31 CLINVAR:2435493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b760b25-71b8-4114-aab5-3724264bfae9 CLINVAR:1482695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1aa3a24-9b38-44eb-b2a2-2dbd37876591 CLINVAR:1482695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6db418f3-24d8-4ee1-953e-291134900bca CLINVAR:1722154 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3cd5aa3-7a19-4c75-86f9-2aa479fe8de4 CLINVAR:1722154 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff436a40-d8ea-4857-8a13-931e0d1165cb CLINVAR:2047695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff040215-6b43-42aa-b352-5807b38e099c CLINVAR:2047695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71e4aa72-7ec7-4c04-ad5d-c4cf0e3c0263 CLINVAR:1487660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c11a1b1-c703-4aad-93b4-1a98923118fe CLINVAR:1487660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a611f797-80f1-421d-9900-a929210c4382 CLINVAR:1722136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39a2ffb3-db5a-4e63-b04a-0c70e5513219 CLINVAR:1722136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f010abe-134b-4b84-85ec-e1b093c6375a CLINVAR:1692648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef7f3edb-20fb-4839-a012-abf8396a51cf CLINVAR:1692648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa5d7d3d-bc32-4a18-b475-96e2624832a5 CLINVAR:1352428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad7c48e3-5d28-4c96-9dd1-c341f3de244b CLINVAR:1352428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eccc938-3519-47fa-87f1-e8b950c12dec CLINVAR:951606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00ad980a-a77d-4044-8358-5421df1b17f8 CLINVAR:951606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f162a92-c208-4a3f-8b41-8f44bfa1625a CLINVAR:464004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1dc569b-7b93-4f03-9082-b82095527d9d CLINVAR:464004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 014631db-9beb-4079-86a4-ec292f5e4fcf CLINVAR:1703791 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ea9aba7-639f-4d26-ae05-706b45a96f18 CLINVAR:1703791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04bff700-b850-4469-a581-de11bb81fa99 CLINVAR:1024050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2566d6b-57fa-4f2b-9e5c-ac7999a97032 CLINVAR:1024050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3155c94d-a97d-4484-a6f6-2148b7fb04d0 CLINVAR:239046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ce4b504-70cb-492e-b1b5-b5b22fb5fba5 CLINVAR:239046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b79d48d6-ef35-4fe4-8f3b-330da90b0b29 CAID:CA410202636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 723597f9-750e-442b-b0b7-1a1dcd716fbb CAID:CA410202636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e3c78cb-ffad-411e-bf63-9a37ab1adba7 CLINVAR:436615 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb805143-7770-44fc-8e9c-77e60481885f CLINVAR:436615 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b21e9559-a098-49e6-a5a9-60069cfc1a82 CLINVAR:853648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff31360e-c562-48c5-8e03-a1322f509520 CLINVAR:853648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a309f173-11cb-4a47-8731-a9fd2e611999 CLINVAR:856424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a70650a3-c45e-48dd-94af-94d06b088b9a CLINVAR:856424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 437af400-80ad-45ac-acc8-c892052104c7 CLINVAR:860155 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 702271be-aa54-4b35-88a2-0bfa850ca97d CLINVAR:860155 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aad8fedb-293e-4d3a-a13e-6cc3ad809c4f CLINVAR:1496304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 728ec9c4-8b00-4d70-9c43-91464f1e2ac5 CLINVAR:1496304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cc559d4-11c8-4132-a726-c8bf6fc107fd CLINVAR:463983 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47217ba0-1d35-4ab2-b853-19777a76365a CLINVAR:463983 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d19c2e4e-81fa-4d4c-a125-d821b9a1da60 CLINVAR:1709200 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a283687-29bf-40e7-8202-8926a77d6fbf CLINVAR:1709200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47c48b06-6f35-400c-b477-855a25357a7b CLINVAR:1016458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5956c39a-ee05-4fc8-b565-4e4ebb024d38 CLINVAR:1016458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96a2bb79-26f7-47b7-ba21-5e19ab5ace3a CLINVAR:962678 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4000631c-2ee5-41d3-9002-e6cf54ba27f9 CLINVAR:962678 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d524c09a-ab1b-4cde-866a-7853485a1cf5 CLINVAR:959847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37a76ce5-c2c1-440d-bbcb-20c53f931a9c CLINVAR:959847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14f273d5-84e0-4d07-b1cc-c2a9f855b5ec CLINVAR:956754 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5ce129f-1f05-44b8-952b-b127fa294aec CLINVAR:956754 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07006833-d76f-4c22-a40c-78d8eed4aa23 CLINVAR:949338 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2eca3e77-c9a4-4d19-9692-1902de3b507f CLINVAR:949338 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b959d8e-5b5b-4c36-8ea4-8dd9865262ba CLINVAR:860286 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62e1d00e-a3a6-40be-8f49-1171fc428697 CLINVAR:860286 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42c16449-a888-4c11-91d8-8796b5b8b713 CLINVAR:845897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0872d808-ae3b-4fa9-ba26-a8332ea4af7f CLINVAR:845897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9890b66b-5f54-485a-a69e-1f01e77ca9ff CLINVAR:655133 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 751c22e6-f6a6-408a-abfe-a5541bc49bf5 CLINVAR:655133 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fabbcc2e-d42a-481f-93e7-1f9c8d4dd1ef CLINVAR:1401789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7062820c-9908-4358-b6db-b0a31968a413 CLINVAR:1401789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88abb7d1-701e-4909-b10c-611bd7382065 CLINVAR:570999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13534690-7bce-4736-a86c-2c52a1784b49 CLINVAR:570999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47a7c13d-7c54-4ffa-aed9-222b1ce9b16c CLINVAR:1359458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00344d34-ac26-4026-9a73-fb6f42b0301b CLINVAR:1359458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f93fc5f-7ad0-4ac2-ab98-c440d49be85e CLINVAR:2087940 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00db0220-0de2-4a82-8166-55e1a2b87801 CLINVAR:2087940 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca0279b4-6f75-493f-ac43-32551a81bd8d CLINVAR:409825 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0974738-fb4c-4f27-bd00-c739126bc1aa CLINVAR:409825 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dd86514-d85f-4911-8224-3d35b3910a19 CLINVAR:561241 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aaa8a2db-88a5-4eb4-8851-3800fcb760d7 CLINVAR:561241 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c9c11f-acf9-485d-a3e1-100bb7661e70 CLINVAR:862114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dca784fd-acf6-4ab9-b476-82e628644a0f CLINVAR:862114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 744073ba-b1cb-4fbb-9b9c-984232275344 CLINVAR:561239 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ccf52c9-187b-4899-901b-15c45faf42d7 CLINVAR:561239 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37792ee3-05a1-4f45-8ec6-689aacf640b1 CLINVAR:1692641 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ced77eea-b510-4dc5-9dc3-b36291dae387 CLINVAR:1692641 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2149b0f5-2284-461b-a55a-7f802b8387ba CLINVAR:1692642 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b99521ed-2671-4074-a1cc-00ebd852754e CLINVAR:1692642 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3ac6470-bc13-4d0d-b34e-1c9c6ebdcc22 CLINVAR:1389496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35a08770-2c9b-4292-887f-dd55b40424da CLINVAR:1389496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23bec5e9-04ff-4b50-b6dc-ccf145dde794 CAID:CA410202624 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38cedf53-5f50-43e0-a38e-45d8b704b057 CAID:CA410202624 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d49c2418-fd29-40c8-889f-1eec0503f478 CLINVAR:1005132 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa50fd80-7df4-49ee-81d6-f05ecddd391d CLINVAR:1005132 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0d0e640-cff5-4895-ab9e-dddae6ec6be7 CLINVAR:968245 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1242363-4c24-4230-9aff-53b1ef55de62 CLINVAR:968245 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cc5c5e5-9e6d-4c83-ab41-3ef887844370 CLINVAR:2145852 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01afb2a5-e950-4095-bfce-98d0302ffd32 CLINVAR:2145852 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09d8979c-5a12-467c-8936-cdec405d6190 CLINVAR:1721206 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95a017f9-3bb3-4aed-bdc9-566a7ae7fbf5 CLINVAR:1721206 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36b094a1-d232-4703-aef9-c225a2cce5a5 CLINVAR:1142515 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50af219a-b37b-44aa-aa0f-a42096b4fe84 CLINVAR:1142515 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaed5342-d906-4072-b09a-e947d6efc16e CLINVAR:935710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d88dac6e-cd3a-40a8-9a23-5c158cb633b8 CLINVAR:935710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a858c5eb-0db7-4be3-990a-1c4042ef8d5e CLINVAR:840868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f132a50-5e5a-41af-90c2-d8236ce249e5 CLINVAR:840868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72539564-564e-4671-9be5-dfc42db10e31 CLINVAR:641150 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea988890-ce67-4954-b244-751b7009202c CLINVAR:641150 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75c8ebe1-7c2c-43a4-8ea0-77f653c45f13 CLINVAR:660172 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c7ec822-287b-4051-9dc7-7db95b500162 CLINVAR:660172 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c180307-839c-4857-bf15-9b047e47db15 CAID:CA16020817 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa2e49c5-cc0c-4f24-8d3c-d32fe6c38d0d CAID:CA16020817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84cf90d2-34be-4725-ae54-3418710c64be CLINVAR:2226 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef03d507-63ed-4f2d-b735-15eb5d2a5871 CLINVAR:2226 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61905e60-db53-4b21-bb30-279c1967aa84 CLINVAR:182978 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41fc6c59-581b-4336-ab27-8e1b1a06b4ae CLINVAR:182978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3c1d182-34fb-42bd-ab4f-7000c761abe1 CLINVAR:988847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23e86518-4c42-415d-9688-1c7eefa0f93f CLINVAR:988847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56761b04-b423-40ff-9d4b-51e99c24fdb4 CLINVAR:1014459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13e6b165-586e-46e9-b7f3-0f15f5565c44 CLINVAR:1014459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52d68ec8-8b29-4628-85af-95eddb195836 CLINVAR:464003 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d99de348-c6c2-42f0-a20f-ab5ccfa8d004 CLINVAR:464003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a495fc8-38a3-4b38-b934-b1e2c0028f36 CLINVAR:1125165 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81d8cf9f-331c-48f3-bdc9-6f7700cdcf9c CLINVAR:1125165 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4335006a-376e-49c1-9377-a4dcca2cd07b CLINVAR:1025166 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b38b706e-2d05-4fb8-9f9a-b7cadab319b4 CLINVAR:1025166 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e9281ec-05cc-4234-80a6-8db4eb6e8161 CLINVAR:239050 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00f3bc9f-2cae-4d97-9cbd-44205b63cd88 CLINVAR:239050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 937cda7a-0ba1-4ffe-ac92-ea4e58e181da CLINVAR:649370 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38ff4fb1-cc92-4cff-8f59-3289f36b1f81 CLINVAR:649370 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38365289-6b19-496b-af00-2e76b1c03efa CLINVAR:1009786 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0af155e8-37c6-4219-ae5e-ecac15c167d0 CLINVAR:1009786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dba491b1-63cd-4623-b8c6-9a3f93ff19e4 CLINVAR:1077574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8777efc2-d415-4910-b34b-4d53f8b776e1 CLINVAR:1077574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7608face-2f21-469a-915b-88b05526cd46 CLINVAR:1417068 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 21d7f150-e19d-46d5-9cf3-0df97ea118b8 CLINVAR:1417068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 753dd96b-62ac-458c-b825-46a36409587a CLINVAR:2417866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87bd34e9-935e-456c-99b4-d37b7c9e0084 CLINVAR:2417866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a14d30da-785a-43f9-b59d-3af41d6c8585 CLINVAR:1524897 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 819f48a1-0bf6-4cd9-a9f9-aa3cb95bfc2e CLINVAR:1524897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8818d0df-fb55-454d-a55a-05a783216c76 CLINVAR:1496240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d98e647-6c4f-4885-a841-725a46b528c1 CLINVAR:1496240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9a9714d-c11d-49c5-8369-c62b47b04b12 CLINVAR:2071711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66e5e8e1-6c08-4aea-9210-02d0191cf574 CLINVAR:2071711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf4aaac1-fe05-4f85-86ac-76ea0f9d9403 CLINVAR:1321699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen affce249-fb72-4531-91b9-6f02d6048f5d CLINVAR:1321699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37f555db-0e92-4934-b967-f3f697d2ab66 CLINVAR:1374525 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43f94589-6f03-4855-b690-68bce140d46b CLINVAR:1374525 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be95bdb9-b357-4f22-9ce0-5e7893d5661b CLINVAR:964908 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55fe4be4-cfa8-4fb4-b2f4-9da865b267a8 CLINVAR:964908 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af5e7ec2-b44b-46d3-be2b-0484fb65d5b2 CLINVAR:1052351 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e32855d-bb58-44ee-a976-56d6869eef28 CLINVAR:1052351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 620fc01b-3013-4ac0-8c08-78394243b122 CLINVAR:1348351 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e810160a-b076-4cbf-9706-ceafb19ad6d5 CLINVAR:1348351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9787207-8727-46f2-80d5-d1df5f5c104e CLINVAR:1723808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0e86ddb-0032-487e-9688-6d563ffe1009 CLINVAR:1723808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d0bf42d-81ff-4d2f-99f1-8b585b966d2c CLINVAR:956982 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca06d63b-07f4-4c23-85b5-30bbfbc4a1ba CLINVAR:956982 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b4724b6-225f-4bfb-9218-67833c1b9a86 CLINVAR:2163996 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32fd46e8-3149-43f9-84a0-efdbeb7ff854 CLINVAR:2163996 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2642a8d1-ce48-486a-bd37-e9df77747999 CLINVAR:837795 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4190fd49-a062-4849-bab5-c5bd87ff1321 CLINVAR:837795 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebf7c9ce-9dee-4db2-a6f8-f91d1394b590 CLINVAR:1396766 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6077012-2da1-45f9-8a41-622143dcacc9 CLINVAR:1396766 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73996450-a6ad-475c-a60c-b7a641f5d74a CLINVAR:532667 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78cbefea-434f-4a6c-8e4b-d132a48f442c CLINVAR:532667 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7055bb38-2e35-412c-8f0c-a65bb955d121 CLINVAR:1010913 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbbe4f61-76c8-4bcb-bfeb-6204236f2fc8 CLINVAR:1010913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2725a8e9-4d72-4e75-9649-96439be796c3 CLINVAR:1022052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee5ff9d4-0068-4ce0-bfd2-778250886e11 CLINVAR:1022052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d7fca11-8252-44a8-8c08-47788a2b1ce2 CLINVAR:837567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36fffd52-76bd-49fc-8666-7b8dbe19b364 CLINVAR:837567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 107c8318-bd29-4db5-9224-9296ec39985d CLINVAR:2150091 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e250c87-ea46-4d30-8dc3-fb0b9102e640 CLINVAR:2150091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d827e67e-4915-4d39-b1cc-736cde515298 CLINVAR:1951250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4f96bca-de5f-4cbc-b6cd-1f9e7b0ef2bc CLINVAR:1951250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c4dacef-dea4-4c2d-baba-038ac1df3d2a CLINVAR:1533052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a39ecad-db64-44ed-b4fe-2eecfcb23d92 CLINVAR:1533052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66889bf4-8224-4821-bc8b-6b282dbbd9b9 CLINVAR:2060504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16c55130-c5a4-4699-8200-41ba246c5bf4 CLINVAR:2060504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e9e64bf-3fee-495a-ab94-82e89b5e3531 CLINVAR:1514344 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff9669a1-d7da-42c5-98db-03445d4d8789 CLINVAR:1514344 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b501951b-64be-465a-888d-fde687581cf3 CLINVAR:2002578 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 291f7b74-7189-4615-ab0f-7501596a84b2 CLINVAR:2002578 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54946fc8-cc66-404d-b23a-5051efb1847e CLINVAR:960077 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56415f9a-7637-496c-ba16-28a5d2408869 CLINVAR:960077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43228348-731f-4d56-8488-bd383088c82a CLINVAR:999481 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 22558429-1a62-435a-a936-962145a15115 CLINVAR:999481 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b46b76e-6b78-46f1-bcd7-91f4cdf8bc62 CLINVAR:986424 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9172762d-b312-4acb-8247-33d129f2cb3b CLINVAR:986424 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92236f4a-bde1-4ea0-be4b-3a2b4a64e6cc CLINVAR:9596 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4665f37-3a25-48ff-8950-cd27128b632a CLINVAR:9596 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a08e4d63-fca7-49f1-87b2-56c9a5acc93e CLINVAR:689929 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba658900-70cf-4aa3-82af-c41883669ee4 CLINVAR:689929 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a86952e-ee19-4d60-9f11-6e312cdcfa9f CLINVAR:1679204 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ee6c08a-499b-4e97-8783-e328a9f5b1f2 CLINVAR:1679204 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 271f4168-3870-4e19-8f24-3f7eebe5b605 CLINVAR:430689 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8c48bc0-c79c-4117-a0da-133d77dcc7df CLINVAR:430689 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8639004-cea6-4805-b152-7579d6d44b17 CLINVAR:636202 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b6e83ab-6597-4c7b-8b89-2cbf17c3a7f3 CLINVAR:636202 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49d1c220-91a5-4ac8-9c11-667a0e718b9c CLINVAR:870345 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2bd359e-3190-4952-bf23-26215c95ec1e CLINVAR:870345 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4b0210-3467-469e-a9b4-d754e18a89c9 CLINVAR:2678439 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c57c2dcc-8ec5-42f2-b3aa-0ee3f370c315 CLINVAR:2678439 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e32e4095-4bd5-4b64-9238-d0b345b85a4e CLINVAR:13115 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 514fce04-8514-4fa2-9e24-ba09b3618683 CLINVAR:13115 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3e2bca8-c663-45a7-8227-74f110dd41b2 CAID:CA2580612188 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7181619d-b65c-4086-aa8a-e1b10038cb4b CAID:CA2580612188 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a655220a-10fd-4ee0-8486-81af3a1d4f53 CLINVAR:98868 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 770edb12-e238-420b-971b-12d466a9bc38 CLINVAR:98868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 776a60be-9634-40d2-ae1d-ee90c7b51a9d CLINVAR:812758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 319e28d1-bb40-414e-88be-e18d232e99a9 CLINVAR:812758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e9934b9-5d62-4413-aa1e-61f31f2819df CLINVAR:874235 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8496e461-5a77-4b6e-9b38-63f109e1e468 CLINVAR:874235 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e227f7b-6b4d-4991-b8dc-c24c54bf3569 CLINVAR:298022 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f382894a-d441-48fe-98c9-7465fea409ca CLINVAR:298022 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ca6f4d-3840-4fc8-8d2e-325b648a78c8 CLINVAR:98843 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15090ab3-b418-41b2-9f41-e85c1dc67723 CLINVAR:98843 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c319867d-7296-4184-b1f7-ab8b123f3311 CLINVAR:235698 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa714d65-5015-4dcd-851f-32933a7f5ab5 CLINVAR:235698 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8fb3430-b41f-40cf-9a29-0d6757e56605 CLINVAR:39575 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bafe792e-ebe9-4d58-9690-09d2095fc39c CLINVAR:39575 biolink:is_sequence_variant_of HGNC:7499 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 191b3337-da6e-4aad-b400-a37993f4d12e CLINVAR:618222 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fcb15e5-36af-42cd-8cd8-c2d2f7acf8fb CLINVAR:618222 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4753476e-bc07-42bf-83e1-1c31e363bd79 CLINVAR:9682 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3acab14-e996-4dfc-a475-e8814b1aa5b0 CLINVAR:9682 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe3e707-38d9-4222-a3de-146bdd559226 CLINVAR:9680 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ae44f7ef-cfc3-4a44-9de5-da99d8a06525 CLINVAR:9680 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c49e9f9-9ad3-4641-94f2-4eb15b707730 CLINVAR:949591 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bef9ffd-d8c6-44ef-8b65-a9a8069e0b90 CLINVAR:949591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a94e6f0-aa6a-4710-b55d-ee792a542751 CLINVAR:2088789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 396a7600-3b00-47cb-9636-5053588c4e64 CLINVAR:2088789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ad501c9-64c7-4c30-bd61-944568672772 CLINVAR:2089191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51f403df-2bfd-41e4-8954-c95a32c501f6 CLINVAR:2089191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8f444b0-c1e6-4364-9ddb-af04e3cf27d3 CLINVAR:1024911 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e241abba-e052-405d-866c-723708ac620c CLINVAR:1024911 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aa22eff-b154-4089-bd4b-0771a10bf501 CLINVAR:2078130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c63993dd-4d85-4130-89c0-d5b8aa970e83 CLINVAR:2078130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1388c249-01c7-4717-9d3c-08958a27d475 CLINVAR:2151600 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1278f875-249d-4fea-a34a-11ac5fae1f48 CLINVAR:2151600 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0905577-905b-48ba-8e8d-f8d7cf489e4a CLINVAR:2089328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6af6d17-4bbf-4ab3-961c-918fc0af12bc CLINVAR:2089328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b8fb51-ca76-4815-a988-a3bc25442b31 CLINVAR:1986052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fccd298-d737-4471-bc78-439d495f4d4d CLINVAR:1986052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75630161-5a31-42b7-932e-fb1bb778160a CLINVAR:988809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b084c592-9994-4e27-8d98-c3fefce4d044 CLINVAR:988809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0793c690-e233-4ccf-aed5-8a617a1dc6f7 CLINVAR:2094507 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4558915d-4e66-4fd7-a117-bb4c2144166a CLINVAR:2094507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a195c362-be3b-441a-9194-d31f557c217c CLINVAR:627100 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f176e30a-901c-4b73-9dea-de32bdd72ecd CLINVAR:627100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f709412-459d-4236-89b8-3d34d1702552 CLINVAR:660565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6f33731-101a-46ed-bbe1-12b843710b75 CLINVAR:660565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d407978-513c-4ddd-87ca-7c0193bbb243 CLINVAR:1684453 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5b853e1-01eb-4137-8ba9-b806a1976e4d CLINVAR:1684453 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbec9bc4-3916-4c2b-a211-146365108c39 CLINVAR:935114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0aad56e4-d666-40a7-a285-ca96aa80a204 CLINVAR:935114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7fcdf8d-c6fe-4959-b293-b588ca44e8cc CLINVAR:1466432 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 370f5caf-bebe-460a-90dc-615a0a4c0177 CLINVAR:1466432 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 830ba0e9-0ae5-4991-8589-895d52000de4 CLINVAR:971877 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3de2d2d1-0f6c-401e-9a21-61e9ffd7dee0 CLINVAR:971877 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d541164-4bdc-461a-a3d3-210794aa4705 CLINVAR:839213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4765980-66ce-48da-9be8-a9af39db0032 CLINVAR:839213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ad26137-d36c-4d3d-9e88-ea813b131bc6 CLINVAR:1382220 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25b552e3-0dba-4e83-a512-1d6abdec65bb CLINVAR:1382220 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d201472-9e8a-4ddf-a5f6-b37f29d484fe CLINVAR:532669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01bd56e2-36ec-4d9d-b52f-d1a1bbc78e30 CLINVAR:532669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f51ab64-1549-4b06-8a0c-21bdfebd7860 CLINVAR:2126194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a87a774-1598-42f9-8f3c-aa38518c2eee CLINVAR:2126194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c29a962c-1f45-4726-b51c-0f4fc8f20666 CLINVAR:532670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acc68e73-855a-4811-9e3a-13a8ed6186e0 CLINVAR:532670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f7bf94f-d57c-49e5-bb37-6d92b10cb01d CLINVAR:2076125 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9991e76c-a5cc-4fc7-ba02-88b8c2654150 CLINVAR:2076125 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 258e99a8-3d39-4632-8d06-63e14f182e91 CLINVAR:838046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df1dcf06-36d3-47ad-9346-dc441600bebc CLINVAR:838046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49f7b23a-9461-443f-aaf5-ff4e9289f4d4 CLINVAR:1713291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a46d3f24-4d17-4156-b4c9-cab60a7ff41d CLINVAR:1713291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 632224d2-5c4d-4971-869a-bd750e792e78 CLINVAR:532652 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0fd3b60-bcaa-4411-bf00-6b7bc263590b CLINVAR:532652 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ea0dc47-400f-43e9-adba-a6295161f5df CLINVAR:1711954 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d84886a-9e77-4a91-b418-a24cf1b1f7c2 CLINVAR:1711954 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7061aa1-0193-4e27-9fab-6f6dc7258551 CLINVAR:2183638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1af64dab-f41a-40d1-bc5b-6f71e1494db0 CLINVAR:2183638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35226e28-c88c-4a0c-a5be-9ce12ea7cad6 CLINVAR:939981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 916933a7-5f3b-493e-a87d-ac99c1917d50 CLINVAR:939981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f168bdb-d389-4e3b-a7e7-743ec6bcb87e CLINVAR:1716418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72e63ee8-68df-45c3-a289-782c7a29e836 CLINVAR:1716418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c216c3f-6378-4afc-9c57-5d0b8f23d1e8 CLINVAR:953427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df043677-e660-4509-8c1e-6b83cf8e64c4 CLINVAR:953427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56e9de86-6f0a-4a27-b5b5-2bf30861be4f CLINVAR:651472 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c81cb48-bd98-452c-b51a-20ae5671e69a CLINVAR:651472 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8b070dd-9f66-4653-81f4-0a07a592a37c CLINVAR:1055114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b987974-c805-4e6b-b6ee-5d8b2ed1cd33 CLINVAR:1055114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 598375b8-26ad-4f26-adeb-572d0b65bbc0 CLINVAR:1951248 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 25825b8e-af54-4e6b-bfc3-edf7f174a8e9 CLINVAR:1951248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab4be236-df86-458c-aab9-8ebb58b89d2a CLINVAR:2089097 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95809b1e-967e-4b21-be1f-3ed0e1a9418b CLINVAR:2089097 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 408394fc-5ada-4724-b893-8fda20a85836 CLINVAR:436612 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f827e45-5344-4bfe-950a-9d5e0a91a88c CLINVAR:436612 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82a26e35-e5fe-4ddb-bd2c-086f537216b5 CLINVAR:1521966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfe5783a-c376-4789-b23d-5f8604bb02be CLINVAR:1521966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8757b1af-7d74-408e-ab91-090eb446ccd2 CLINVAR:663526 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29523278-3038-4573-8c11-99859656c948 CLINVAR:663526 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5e75411-3aeb-4b48-855a-57ae3ac525af CLINVAR:665375 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2dcdedc2-c30f-48d2-a4c1-534d497ef23a CLINVAR:665375 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 836a8789-f37f-4d5c-b58b-8c6e078e2703 CLINVAR:1475629 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2529e659-6345-4099-b599-7826a70b9f6e CLINVAR:1475629 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aafacfea-adb1-47f2-a4cf-0ced7df18cf3 CLINVAR:30003 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 992edcd1-3aea-47a0-89ae-ed323ace2ad5 CLINVAR:30003 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 098b4d7c-c51f-4141-8129-ecac90e8e66f CLINVAR:36365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7069df4b-e6b8-41be-9ab9-1f031b323a09 CLINVAR:36365 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fdd6e68-fc71-44c4-bd5c-724ca9b37510 CLINVAR:827573 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 710a06f5-86d6-437e-8b7a-e5d9b2ee155d CLINVAR:827573 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59283e9f-5623-4052-a523-b774a8b8e7cf CLINVAR:8757 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70bb15a8-50a7-4253-8fe4-9728f8d5db74 CLINVAR:8757 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc1e6d4f-0218-4511-b8fe-66639af24759 CLINVAR:1517590 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9ee50f8-41b2-4b52-a150-7b521bde3a5f CLINVAR:1517590 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7bfad8a-5f16-47db-a508-b01c77afb513 CLINVAR:827574 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75723529-b420-4c07-b7d9-17a5ba891666 CLINVAR:827574 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eafdf3f-75cf-4c08-b95f-4865c5dbdc65 CLINVAR:869415 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69e3c6af-ecda-41a0-b2b5-7846d2fcdcf4 CLINVAR:869415 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25e6e94f-3dec-4420-adfd-3981f4dfc5fc CLINVAR:852208 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cddf2c3-3ed6-432c-a6b2-bf9c6c38b4ce CLINVAR:852208 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24ce8aa2-fb32-43ac-9971-ef9b796cca2d CLINVAR:644342 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01a75c89-de0e-41e6-a402-870ec7aea203 CLINVAR:644342 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f66151d-1890-4c41-bd85-c58a89a0e225 CLINVAR:827572 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ccc9250-e938-4a58-b898-475a11d66626 CLINVAR:827572 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b7b5008-b2be-4c2d-8a55-69ba6bd61b7c CLINVAR:656631 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9bc33ed1-d776-4f0b-9d50-19fbce892868 CLINVAR:656631 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99355343-4c91-438d-9a02-e1f0c1c54673 CLINVAR:1610976 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 842add95-62f6-4175-993d-6dbdec92f527 CLINVAR:1610976 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70ef5118-831f-42df-9f23-58157dc5d83e CLINVAR:392379 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10ef6483-a1b0-4ce0-837c-e892451e13aa CLINVAR:392379 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67221555-8768-4062-918c-68711014133e CLINVAR:422945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d685dbd-c9ab-4970-93bd-6f69758cba8f CLINVAR:422945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79ad5971-5750-4bf8-b6c1-aac3d49dcfce CLINVAR:858136 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 613fe161-95ae-4560-96f7-8c591d19a046 CLINVAR:858136 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e833a5cf-e499-43c5-bc7c-4f1fada9622e CLINVAR:423100 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c4560f5-c012-4bcd-89d3-95fda6140424 CLINVAR:423100 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa287578-6779-41f5-b45d-549cbb9db9b9 CLINVAR:536427 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3df6d7f9-65bf-49da-9173-b71ccc4cb3be CLINVAR:536427 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd320e7-a6eb-48f0-977a-5b33949a1c9f CLINVAR:1199408 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7eb5b7f6-8747-4b5b-8a06-5a3d2360e0b9 CLINVAR:1199408 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c115c037-ac4e-4ae0-9c01-f018a2fcb684 CLINVAR:418218 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f1f99fa-400b-4512-b59d-204c52f18e2c CLINVAR:418218 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44f4aa02-b4ec-44c8-968e-fb908c57897b CLINVAR:2108802 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6271b54-3d99-4a6c-824e-a462d631529f CLINVAR:2108802 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae60efca-5701-41da-9a46-655c3b0a7a27 CLINVAR:660886 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab75defe-04cf-41c2-9c5f-1e9319d26634 CLINVAR:660886 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8df6d750-15e0-4918-baee-862dcadfa909 CLINVAR:665887 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 451ea20f-6bd4-4982-8fff-373c7ff2b5cc CLINVAR:665887 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ea3d7fb-0725-486a-82f8-ec1b0d0fcc2b CLINVAR:827578 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 835ab7e7-23cb-4d70-b62b-4a3e3816059c CLINVAR:827578 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ab96827-1487-45b5-80c3-5be055564958 CLINVAR:626107 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63d136ff-6397-4966-bf40-d8866b4c566d CLINVAR:626107 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 317f44da-f453-49a9-bbe4-62817f790f2b CLINVAR:1048525 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa379cca-eed3-46b8-b795-36f8257b67d0 CLINVAR:1048525 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd39d4e5-e6a9-4929-ad82-d0298571c33b CAID:CA398323709 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7a049a8-cb5f-44c8-86a9-42a3f24c2936 CAID:CA398323709 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b96669f3-ee7b-468e-86bf-47c9ef12970d CAID:CA2497028945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen feab41b6-d15a-4e5e-b10e-56a15235af77 CAID:CA2497028945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2915c53-a172-4e16-a978-c335b00518cd CLINVAR:2726823 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd0218a0-2e1d-4052-8058-295253758b6b CLINVAR:2726823 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3800432a-baf3-400d-86bd-d54e125b091b CAID:CA2573320470 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec96aaaf-3064-43b6-bbaf-21324f3b400c CAID:CA2573320470 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a75e0d05-d2d5-49b7-b543-c3074adadd86 CAID:CA2740089966 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ddb6f2b3-1db5-46e2-b9b0-b8a21a97ccd9 CAID:CA2740089966 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bc30442-3ca1-4528-ae07-acd024307e0f CLINVAR:1456275 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7ccc069-6554-415d-bf7e-0b0b323eb1d2 CLINVAR:1456275 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1534fe86-3d1d-4edc-8427-96246980815f CLINVAR:412056 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa25fc87-7c80-4318-b90b-5e429bfb3224 CLINVAR:412056 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6f0d8c3-b322-4437-830a-5aed614277ba CLINVAR:1723516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 178e4ee2-5490-4c7f-8575-2614a7721ff9 CLINVAR:1723516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7bae36e-4e1e-4812-a768-c3f3e3fabc9c CLINVAR:143774 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41502b67-2c7f-48af-b5b4-313f322014e3 CLINVAR:143774 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2276e2d1-f386-4c6a-820b-59d2ac9942d6 CLINVAR:162370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a03c97a-5b6d-4420-9de4-98f948683ae3 CLINVAR:162370 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd595cff-90cb-40d3-bd95-7587383e8ecf CLINVAR:9609 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a15369d-c7a4-4bc0-bdc1-aaa70855970b CLINVAR:9609 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen befc0b9a-10f9-4293-a538-fe6a4d7d2453 CLINVAR:2018786 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fafdccb-5917-4f83-a562-faf7eabb4f19 CLINVAR:2018786 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da429194-de1a-4bca-b0e5-82e7e68e60e4 CAID:CA386965264 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 304fd526-52c2-4688-8a15-0c70eae6f99f CAID:CA386965264 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa24af3-0466-4db4-9293-d981bcecee83 CLINVAR:36801 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7e657ba-4930-4c09-b562-97d02be3ceed CLINVAR:36801 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5df84f99-fa07-426a-aeee-781a93cceeb8 CLINVAR:562466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5387a32a-1f8f-4bb7-8109-4b9128d0c343 CLINVAR:562466 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d46f50e-f89e-4dd9-a72e-cd1f9fda4725 CAID:CA386972269 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd41813d-e8c7-4b02-9230-22aa019f5132 CAID:CA386972269 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5385794e-5415-44d2-9dc3-5d88547475e0 CAID:CA386973449 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7bdc3e6-d374-4b76-9055-7271efe24967 CAID:CA386973449 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6522164d-96c5-4609-b7d7-d694ca20117a CAID:CA386973446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f426b396-3ce8-4927-ad37-cf797d3d0b0c CAID:CA386973446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 271da7aa-b317-4c7a-8851-6f48b5e9e5de CAID:CA386972734 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d12e6685-285e-42ee-bfc0-3ab65882531f CAID:CA386972734 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be893733-4b63-437c-a67d-ca9ff7729021 CLINVAR:14932 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f83dabf-cc18-452f-ace9-8202b9e12bf6 CLINVAR:14932 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92289ea9-4e81-462d-9a0d-b020bf37c1c1 CAID:CA2573051047 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80828191-a1e1-4350-870c-b60afc6bbf29 CAID:CA2573051047 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c50d7edf-3694-499f-a1e1-4b1352b67f52 CAID:CA367402230 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 740d8e99-e39f-459b-85ab-391228e86ace CAID:CA367402230 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac6535c4-c34f-48b8-a419-b4ee58ade0e8 CLINVAR:1438546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 027d6ca3-6154-4d69-a37e-eb33b736db11 CLINVAR:1438546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb1893f-970b-4ab7-b3c7-24787719844d CLINVAR:1338044 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02e47d37-7330-4e70-ae85-bddacf34c725 CLINVAR:1338044 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc6ffd98-68ea-4268-9cd9-a47a100792b3 CLINVAR:409824 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 012743ad-1a72-4be8-b6aa-f158f980b7e4 CLINVAR:409824 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86caf9f0-14b6-4e2e-8a20-8c6b53adc4e0 CLINVAR:934175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5bda5b26-c261-44df-a58f-6f9a9f4a0d54 CLINVAR:934175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8145c92f-baf8-4544-b4a4-711ab47caf26 CLINVAR:1323540 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1863bb72-ffbf-4b55-8845-07e7081054ee CLINVAR:1323540 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4abc71d5-5717-4083-8b5f-8fac2a85b95d CLINVAR:1338557 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 513caf0d-4799-40e8-9451-f817befa1446 CLINVAR:1338557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28dde3f4-35a1-45d5-aec6-d1e1a55c76c5 CLINVAR:640778 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0cab494f-d80b-47c3-8d32-94efaf33dac5 CLINVAR:640778 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2581599-78ff-47f0-8116-bdd7ef8b9415 CLINVAR:409819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efb801fc-0db9-4a14-860b-16e583f3389d CLINVAR:409819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b924e024-0235-4830-8176-bcff341b852d CLINVAR:1052786 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 218e52ae-b039-4b73-af81-f5fc2ce76c5f CLINVAR:1052786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb5ad441-8533-4463-b909-98591c19110c CLINVAR:858848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 743b4599-c827-4145-84ff-74ff7e532d88 CLINVAR:858848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33a820fb-e26c-4521-9269-dcdc5567c0ee CLINVAR:2002610 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b6c0520-a580-4cfb-86bf-285653e29308 CLINVAR:2002610 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91c3e291-39b5-4895-94ea-39f43370e578 CLINVAR:2126320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cebea0b-6860-407c-b273-2a2488f3dc2a CLINVAR:2126320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aac8cd3e-bad6-4497-9d59-2097a4b605ec CLINVAR:1718102 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13141bee-19c5-4cd6-86e0-da971dabe6fd CLINVAR:1718102 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8a7f60c-3883-48fc-a372-cec05d00c6b4 CLINVAR:960066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e808659f-037c-47e0-b363-5150a5dd15bb CLINVAR:960066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a24554c9-5e65-4868-8876-13ff0af5ae78 CLINVAR:2062797 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc4e5dad-4084-4097-bfa2-50dfa3ffbcd3 CLINVAR:2062797 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 279e590e-f4d3-4512-b906-5f5b1fed7f55 CLINVAR:1003215 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93f8194e-df3a-4340-ab7f-b2d5319467fa CLINVAR:1003215 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a47984d-b0f8-4c8f-8886-d23197a1ad40 CLINVAR:2116304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa0b4d69-8a23-4f3a-adfe-e2cd346cdf75 CLINVAR:2116304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd128c07-1ccc-41e3-9bde-00e5e6a1fbcc CLINVAR:1972477 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4612350e-010c-4823-86c4-b1739e436220 CLINVAR:1972477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 359e5270-3c92-49bc-8474-3e74d8c19879 CLINVAR:1471430 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f564a14f-6868-4ad3-a214-57a8923720fd CLINVAR:1471430 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b821b561-31f4-4ccc-85e4-1b1d35f1af22 CLINVAR:1067421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c107e50-1382-4885-a60d-ee05e273f10a CLINVAR:1067421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a0caf9-b795-4b43-a550-60285395561c CLINVAR:409806 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4eddd6a-7d08-49d2-8c47-d71330bafbed CLINVAR:409806 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5398dd72-3f36-4356-8a15-c3804bcbc118 CLINVAR:1999266 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01b47f90-a69c-473c-887a-4eaf223e2096 CLINVAR:1999266 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00266703-09f8-4e47-9c98-aa877edfd950 CLINVAR:1040855 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08f89658-cdb4-4120-9b50-62603429a69b CLINVAR:1040855 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9731220-2522-48c7-8c96-363c85df8e4a CLINVAR:649413 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa856f87-260e-431a-90ad-6aa8e1205e33 CLINVAR:649413 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d93baaf-c54e-4684-9cc9-2e2b467c4095 CLINVAR:2011243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27661bbf-430b-41a0-8d4a-af3550d146fb CLINVAR:2011243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 013b338f-d243-4ef5-9b65-f955dc2b571d CLINVAR:1937674 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c753d5a-b2fa-4ea0-b13a-f2e5ddf6e1f6 CLINVAR:1937674 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40f7d090-3323-4f74-a952-b421355917cb CLINVAR:2008544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 764b6a08-726b-482b-af8a-10cc9787268f CLINVAR:2008544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f149d39-3d12-4325-8057-996ed0306075 CLINVAR:579883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6b41943-8eb5-4881-98ea-d22ccf1c4551 CLINVAR:579883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a071102-47fa-439e-b50f-08a0cbbbe0bf CLINVAR:2029145 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d61924ca-3521-4e25-b6a1-b09f9637fc87 CLINVAR:2029145 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75a0340c-a141-4a03-a634-71080ab30b04 CLINVAR:2029256 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b79aeaa8-497a-4294-863e-ca7a603e6a86 CLINVAR:2029256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fde47b1-2480-4949-ba2a-4accc0e104d1 CAID:CA410202496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 548af207-79e6-4e34-9873-a627b2cfe78c CAID:CA410202496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65ef6c7d-e32b-448c-8f89-8598538b89dc CLINVAR:854130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a95cf381-85d1-43d7-beb8-1f36543a3b79 CLINVAR:854130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bd722b2-a7a1-4cfe-b513-3a70cfb18295 CLINVAR:1381966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 387b0f68-633a-4f1f-9578-482062342e9d CLINVAR:1381966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb60be8-ac3f-4f21-aeb4-beb7bd2e6261 CLINVAR:532653 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a45c5d1-8343-4bac-93c6-ca1a271b4f1b CLINVAR:532653 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ebc8c46-24d2-4374-97f6-9d1fb29fae27 CLINVAR:1130279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3125be5-03b4-4e6c-af1b-bb5d6444d767 CLINVAR:1130279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5049c88-0a98-4261-a0d9-37c4d6af7d86 CLINVAR:464007 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20851ae6-3c2c-4ace-b92a-f5afdcfb2a21 CLINVAR:464007 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77ddc56d-1bc9-4e72-a67d-e9c8420de810 CLINVAR:581130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82fecc3d-81a7-48e8-b01a-ae93b5ad49d4 CLINVAR:581130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eee501de-5e63-48c5-ada8-aeae6ba11d2d CLINVAR:661459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8d914e2-2fdd-4101-a0e2-f1ff5f4bb0e8 CLINVAR:661459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2560149b-7261-4d02-96ba-6ce2bb2e46eb CLINVAR:262915 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cd8845f-086e-44b5-9e81-a51420ca29e6 CLINVAR:262915 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1172df2c-46d7-46e9-884c-fe86b9e57ab2 CLINVAR:424599 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a90b702-f108-4c6e-9f60-2a52f396e90c CLINVAR:424599 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b0d0692-f9fb-4c30-b83e-6f9b76fc9c62 CLINVAR:987830 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba0c5d9d-be8e-46e3-bc84-9a1076d4d8fc CLINVAR:987830 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca1d9b4d-faca-4d39-b6f3-e42b75e56eb3 CAID:CA414914390 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8cb41f87-4969-4d6b-861b-945df3b4669f CAID:CA414914390 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc0cde6d-c28c-47b5-a2c9-ec75b31f663e CLINVAR:10606 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44fa7943-4455-4441-a2ff-07f78cd792c5 CLINVAR:10606 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daeedc78-5620-47ae-80be-96f3c653afaf CLINVAR:376647 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0718b93-60e3-4f12-9eef-7244a12395aa CLINVAR:376647 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 637d5d7f-b5af-4968-8560-dc4ea39e2d3d CLINVAR:9558 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 418d3254-e585-4b61-bb12-3dd6e0f88f26 CLINVAR:9558 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8e5dadd-96b8-45a0-a8c0-f088ac31088c CLINVAR:30002 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 504db24e-fac6-44c2-96ea-f3df639944d2 CLINVAR:30002 biolink:is_sequence_variant_of HGNC:7477 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8c7093-f460-44d7-b944-cefb9dd2d135 CLINVAR:9598 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c1a3322-0d91-4f17-99b6-bad6ec8695c6 CLINVAR:9598 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8ad9785-d16e-4622-9249-e71426f2f679 CLINVAR:870573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a63369a8-a241-4fc3-b3bc-5efc4485aa90 CLINVAR:870573 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56c083c8-42ea-4b21-8edc-496dceb34def CLINVAR:9575 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06d2a381-8938-4786-992c-ad5bee6f061d CLINVAR:9575 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1847ea8-eebb-4495-aa56-9c5290c24d5f CLINVAR:690090 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8dd7a49e-71eb-4b0d-8ca6-e265bbaaec84 CLINVAR:690090 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b51537e8-d9c2-4a56-bd6d-719b38434ab2 CLINVAR:9611 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db83f4ba-ccfa-415f-8cb4-158dff424d60 CLINVAR:9611 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5f8d1d3-ce5e-417f-9600-42774758797e CLINVAR:289 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bd5d6dd-939d-4cee-baaa-a0fe97ccb401 CLINVAR:289 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6b38a4-fb08-45ec-b51b-09946b433210 CLINVAR:309 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e82c76b-3a37-452e-bd31-84161dbd6bd8 CLINVAR:309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5c3f44d-6166-4388-b874-1688a75f48fb CLINVAR:31009 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5dab8d26-9370-490d-8301-ef2697542df8 CLINVAR:31009 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c6faf18-2ef1-4d8a-b7f8-ed26a63325dc CLINVAR:100503 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7598909c-f0d7-4c23-8ff8-a4a3c3d0cd3b CLINVAR:100503 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4185b770-7e7d-42df-be90-4ea80108337e CLINVAR:302 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dacdad03-4816-4b62-a16f-39e3a4a3c2f4 CLINVAR:302 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d2c3ff-dc9b-4f80-89cc-3691ff339720 CLINVAR:295 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c08bad43-8a1b-47d9-a9bf-5e693911ddd1 CLINVAR:295 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d461f8e-c2ec-4fca-8aad-278a0cb3b9a0 CLINVAR:296 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e6e1312-0e6c-4a02-a5c3-ec6fdd0692b9 CLINVAR:296 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 961a52be-bef6-41ba-80cd-787a5af805da CLINVAR:100220 biolink:genetically_associated_with MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f89c4205-b77a-448b-bb9e-a58f9c53fe84 CLINVAR:100220 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14771804-64b0-45cb-a538-918608d28aa4 CLINVAR:209173 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b0223c8-bfd6-49ed-9ed8-50c6399f4a1d CLINVAR:209173 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0554e3a-a04d-451e-a411-95ce2fcf012c CLINVAR:1703401 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9bbf449d-27d9-49d9-901b-256fe9e7f51d CLINVAR:1703401 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df0a164a-1a00-460a-ad70-f7f997855a2b CLINVAR:288 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9a94141-d759-459a-9f81-9762744c0292 CLINVAR:288 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7c9c945-81ce-4796-9d19-33cfeea0cfcb CLINVAR:9690 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99c9be8f-c56e-4089-9cf5-12fa986383a9 CLINVAR:9690 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 031872dd-7b17-4ef8-b39e-137886adb91a CLINVAR:290 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f413d0de-fd60-49db-8000-373cd1dd1a26 CLINVAR:290 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85f51af0-3b02-4e2e-981a-a0a5901605ab CLINVAR:374080 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 623b51a3-ce9e-4983-bf0b-3ea5d5a002f6 CLINVAR:374080 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 835f4cd2-00f9-4037-bf17-c052ead6c511 CLINVAR:285 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 094f4f9f-04ae-4cb2-b1b2-703c3eabcd87 CLINVAR:285 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 378adf8a-6345-4423-81be-ebe71bb744d4 CLINVAR:100306 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 131fa4e2-8983-48d6-b634-5d79937e39a6 CLINVAR:100306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b9ba199-1ed9-4735-beac-d988650f6766 CLINVAR:100311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e763b420-6744-4f7a-a933-f6513d08f0ac CLINVAR:100311 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2628801-6cc1-45b4-870c-86dd3f786425 CLINVAR:1003438 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb1e8b19-84a8-40ea-89bb-519c24c8e3c5 CLINVAR:1003438 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d2ad69d-60de-47f1-b9c6-9c46a94112eb CLINVAR:1004688 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 682d813c-6e04-4df2-844c-5f1881264b56 CLINVAR:1004688 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80320250-3c30-4d97-bec1-27018060b15a CLINVAR:1046092 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8be21c9a-512d-47b8-aea2-8fa41662b9fc CLINVAR:1046092 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fea9885-2100-457f-82e6-8404ce34be0d CLINVAR:1036141 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbafb6fd-f937-405b-9428-7ecf1bbe51b3 CLINVAR:1036141 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b45df0d7-d922-46d0-b070-d32c0d7929bb CLINVAR:837191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3f1ef68-91a7-4413-ae98-bb264a31d383 CLINVAR:837191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 072f286c-e23b-41d2-a321-688f3bb73c8d CLINVAR:409805 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7112ea5-2ede-47f5-ad2b-f3233436be8e CLINVAR:409805 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f5adf40-f702-4393-9c64-5bc3826ec52d CLINVAR:1338109 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4042ee7b-a2b5-444e-af44-e63d1d66ed13 CLINVAR:1338109 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22eb6d91-5a70-4138-9068-e05568d39900 CLINVAR:934637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08d76814-d0a7-4517-9745-2fd96c78c05d CLINVAR:934637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ad91371-c3ce-4ae9-8f2a-7c39af422f88 CLINVAR:339848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c80c4750-bed1-4d4d-8b04-800de0a592c2 CLINVAR:339848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f94f0dc-d66e-404d-a8b3-5816df46454c CLINVAR:943347 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b6bca1d-a427-4b99-896b-65fb7641fae3 CLINVAR:943347 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd253c74-ce17-46ce-a698-fd46357eb81d CLINVAR:2067048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6b9947a-4129-4487-84cd-d8476e4b3e9c CLINVAR:2067048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46bae463-6bf9-4797-b0f0-60542523d821 CLINVAR:938322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd99fc84-c1fc-4abe-a06b-501c236f76e8 CLINVAR:938322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa5c0628-9bc3-4a83-85fb-b8e8886b530e CAID:CA410147693 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d5621c4-224d-4eaa-993f-d707f3de3496 CAID:CA410147693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eda7432d-d810-4e69-8a8c-fc92e11626da CLINVAR:1035236 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65150f54-6d63-4b13-8f96-3a5a79230507 CLINVAR:1035236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82443bae-6f87-43fe-98f9-f51020c14d83 CLINVAR:1035156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 807e9ba8-a1c6-4b8b-a00a-4014911a13e5 CLINVAR:1035156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d73670b-9b0e-4be1-9dc1-5bbdee711cbf CLINVAR:1023243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8713e3f-7c10-463e-bf5f-f2133b2bcea4 CLINVAR:1023243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0cbd58a-3009-4f93-9f14-aaf821895ea3 CLINVAR:1014442 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3bb01224-2844-4c6a-af34-608eaa1dabf6 CLINVAR:1014442 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2785528c-03eb-454d-8812-fc69e8847dda CLINVAR:1055398 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03615253-e39b-4b9b-be54-9c2857149bb4 CLINVAR:1055398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8203ab9-42cc-4e85-a2d7-11774de86793 CLINVAR:1009232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4a21f32-c2f6-45c6-b0b1-35a678768007 CLINVAR:1009232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f714e79-0a6d-4b25-a822-c52a638a9d1c CLINVAR:579777 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f28ccbc-30c4-4790-855c-8fa32a644098 CLINVAR:579777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60ae4df1-82cb-42df-94fb-2ec44ed11214 CLINVAR:517187 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33eb0821-6e3b-46bb-a89b-2061a033f816 CLINVAR:517187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00356cf2-b00b-4712-961c-efb65850c7b8 CLINVAR:568926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2012c80-e444-4ae1-a73e-0969bb3a2330 CLINVAR:568926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2fcfeb4-a9c7-402b-b7d2-35fc7396fba9 CLINVAR:642864 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23a047f8-72c1-4f66-b434-458a16366528 CLINVAR:642864 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16c03926-2b1c-448d-9ff3-06915b4e6ad9 CLINVAR:1337164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fc5ce9d-0da8-4435-af8a-82756a0e5c88 CLINVAR:1337164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b41f05d-6d53-4229-88ae-d450f94d2c8a CAID:CA410147963 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d01016b-19a4-4b5a-ac46-37592db77540 CAID:CA410147963 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1151643f-88b5-4b51-9c31-748c8865bf6b CLINVAR:566052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2eaf7527-8f27-42d1-a0fd-a1f087fcb833 CLINVAR:566052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adadeb5e-692a-471a-9334-909b3dbc553e CLINVAR:532658 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd64c7fc-49bf-445d-8416-f576055d1630 CLINVAR:532658 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad8a29f-1ed8-4940-ad16-8b3e4f5dda6f CLINVAR:409814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e849f870-8931-4a1e-a95a-02e42d2cc098 CLINVAR:409814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03c53c78-e6a2-4dfd-8bf3-b90e5c00d284 CLINVAR:1450492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28ab886d-4fcb-4bde-8404-551432873f29 CLINVAR:1450492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8dc7723-7a92-4a55-adf6-989bc93755a4 CLINVAR:561232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d39d09d-f7df-4efe-9380-c357ba288914 CLINVAR:561232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abc86165-5ca7-4963-a90b-0e377d7dc2c2 CLINVAR:561247 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d68310dd-6737-4563-a43a-d61af7a4ccea CLINVAR:561247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 175a04f5-5a24-4ac4-9585-2dc1dcd1c1e9 CLINVAR:619750 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89949791-42ee-4c3a-9e7f-c4de80df76dd CLINVAR:619750 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 276de1a6-a893-4aee-83ba-22093c9eef57 CLINVAR:291 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9044a676-5cae-4368-88d5-86598e27ba3d CLINVAR:291 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10b31f45-eac3-495f-8a7f-a422eaf483bb CAID:CA383503778 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b4bf7f5-d425-422f-9bbb-69f1a79c3ce3 CAID:CA383503778 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24242641-449d-4e71-be4d-a7854c976207 CLINVAR:619752 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0d1fbee4-a801-48e6-9db3-e6b2b6b023c4 CLINVAR:619752 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1a0ea34-96a1-494d-831b-608e3b3f3e93 CLINVAR:100343 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb447e40-420e-4990-ad7f-b1467298689b CLINVAR:100343 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49e66d6f-4ee4-4ba5-9b7c-441cab161be2 CLINVAR:100337 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4a958512-2fed-4a06-86f2-7dd8587d3004 CLINVAR:100337 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac03d156-8d64-4865-9e9d-f70db57fb36a CLINVAR:293 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fda9fdc4-e5f1-4e9e-a7e1-44fb5e329fde CLINVAR:293 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18bd0619-cf34-46bd-a923-7b6afebbdaf5 CLINVAR:100356 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 140f6c6f-34d9-4ab0-885d-6a5024de76b8 CLINVAR:100356 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d21fa7ab-e633-41d6-b489-e9d0694476d3 CLINVAR:284 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27a8ea6c-516b-402c-b330-41481dba3079 CLINVAR:284 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20668148-c848-4ee1-b8ea-13b0b87e72de CAID:CA383496428 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eadd455f-ca5f-40dd-b9ff-61d6c53a5bae CAID:CA383496428 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7bd0be1-b46b-41ba-8d4e-916aa6b221d9 CAID:CA383495656 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 000f06d3-7e90-470c-ab56-e0450e4cb3de CAID:CA383495656 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db7f0e4f-c1cc-45ae-8243-9242bcecb0c7 CLINVAR:1723280 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b93f196b-aa47-4993-9853-62379cd8bee7 CLINVAR:1723280 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0e3dfd6-239f-495d-bb85-879059a7f4ec CLINVAR:627354 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b899ea3b-571d-40a2-b30f-3d1bde3d02c9 CLINVAR:627354 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6954eb0c-c001-4e54-bcc5-70326028089a CLINVAR:100450 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bb02309-08f8-42b0-a702-91d2f93ba9d3 CLINVAR:100450 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2a5bc13-0eb0-4c02-a7a4-421656fc6c8d CLINVAR:100309 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 73e3c82a-09e0-4a1d-ba6a-93bc0ea3fc9f CLINVAR:100309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e853b58-48cf-4985-a9fe-66e562f5ecae CLINVAR:306 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9203d6d1-2bf1-4687-a18b-5856ebae3293 CLINVAR:306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42f4df29-47ff-4467-8d5d-06212d9dbec7 CLINVAR:324987 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 320d187d-f496-4550-9ee5-990f1a60b60e CLINVAR:324987 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ef9ae9-8c81-4b82-bae5-17525dfbe63c CLINVAR:203572 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32205a6d-08d9-42bb-9fec-b9fc9d7280a4 CLINVAR:203572 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0609268-2dd1-42af-a181-25b9f97b1dcc CLINVAR:889087 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb127aa7-85e8-41a5-9138-a6a7e6e6d203 CLINVAR:889087 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72a025b1-25a0-4037-9df5-0af604a3264f CLINVAR:1684006 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec6b7ee2-f964-4606-a96b-27e2c8933f9e CLINVAR:1684006 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd8aba1b-51f5-43ba-b66e-cc87f4cbd5df CLINVAR:294 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ead08cd7-3384-4110-81ba-8af77f9383a1 CLINVAR:294 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7a9860c-68ab-4e12-88ad-07e0afa8610b CLINVAR:100421 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 94f7aff6-4c5f-4a5e-93c0-4b9f33e533e2 CLINVAR:100421 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 419fab55-959b-43ec-a261-a22a5c8176b8 CLINVAR:100326 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f1ce38b3-5299-4d6c-b4b5-e41a1f18e3c4 CLINVAR:100326 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be34eb16-9b81-481e-a707-d46e181bb8d7 CLINVAR:300 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8125ed57-15fe-4523-8339-cdd253f8baaa CLINVAR:300 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5399b51-ca7b-4f32-82a5-e6d6f9e10366 CLINVAR:318 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b831f8f-ca66-4737-bd58-291335540a79 CLINVAR:318 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c46b9a25-dc28-43df-9d42-31ca58322121 CLINVAR:100313 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1240aa41-df45-4161-b66b-70a2e74adcd0 CLINVAR:100313 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63be6d71-7980-46dc-9cb1-7fd53bc19d95 CLINVAR:100308 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6112ea5-3916-49f0-90d1-0b9918f38a0f CLINVAR:100308 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abbb8f3c-62e6-4e3f-ba00-f71ac3899815 CLINVAR:692533 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75d2bba0-2fd3-409f-a847-31e22c4966f6 CLINVAR:692533 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4953c821-1a05-4860-989f-9108a5ded962 CLINVAR:9720 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5cbb9f7-ee32-496b-86a0-0336c91cdce9 CLINVAR:9720 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cd1ea90-e168-459d-8ef9-a7d5aee41670 CLINVAR:9700 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93c05500-f6af-4bb8-aecf-a580d7a5776a CLINVAR:9700 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2eca166-a0b7-46f2-bad9-90a31de0590f CAID:CA410146486 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c636d72c-b4b1-445e-8c0d-0226a79f5542 CAID:CA410146486 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 390ddd8c-9810-452d-a8d2-752b1a82993c CLINVAR:463980 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2f5425a-5c82-402e-8381-129fbb202773 CLINVAR:463980 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 968a7e9b-4e79-4811-9420-0240d72ba589 CLINVAR:409823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fe732b7-0276-41aa-a333-32fe145db1b3 CLINVAR:409823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5335fad9-538a-4d57-8f60-eef494ebebe9 CLINVAR:409816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4affd0f2-18df-43e0-af27-5ac684313f31 CLINVAR:409816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692c997e-adce-4dff-8ad8-13ab1b9130ce CLINVAR:239053 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b64b855-4919-47bf-9461-61d205be5e76 CLINVAR:239053 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb645c94-3f08-4fd1-b357-37a0ab14b759 CLINVAR:239041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 005e0e36-4cd7-4dc4-b09a-ba7c3f1e866e CLINVAR:239041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d02bf72-8768-4e26-94a3-a83fcbf3830d CLINVAR:1439732 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a971497-59f7-4ef3-8b15-9eae5743e4bd CLINVAR:1439732 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ab637a-b07f-4f42-8f3b-7c3ced800cdc CLINVAR:959039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e89f6ad-0246-4bab-9f09-6ba31c1fc865 CLINVAR:959039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e537ab-9f44-43d6-bc49-22a15e0864d9 CLINVAR:1022744 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 513ef6c5-e5db-4c9a-8847-c03438757f4e CLINVAR:1022744 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf6cc261-de2e-453f-8380-150586fa0bee CLINVAR:1466670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56bc5dad-823e-471d-a4ac-72c300368e68 CLINVAR:1466670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ada93a7-a0df-4b3b-b38d-8fd8e519d26b CLINVAR:1051210 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94f9999c-dff9-447d-ad62-5ce2f1542664 CLINVAR:1051210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eb1d755-92f1-467a-97ec-395f62646609 CLINVAR:2166136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81ec31c0-8419-45c1-ba11-d233892b47a3 CLINVAR:2166136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffe7b890-070e-47ba-8146-a880c77329a7 CLINVAR:1338528 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5511379d-64d0-44ff-8e60-722313f833a5 CLINVAR:1338528 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a20e926f-68c0-4078-9104-d16bf399b1c7 CLINVAR:3336850 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a161f1c-bef2-42d0-83a4-1a0fa912a7aa CLINVAR:3336850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b623769-f63f-4abd-ab6c-74425f34b216 CLINVAR:9701 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55bb4c57-0ed0-4bf2-9bfe-f2811fd463ca CLINVAR:9701 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ded1e024-c888-4507-9ce1-f4e4c0e7f5ce CAID:CA2825000789 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5fe019a-e6c9-467f-a966-6c4ff0e1a92d CAID:CA2825000789 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e27864c-237f-47d6-b08f-0ae4c19d2db1 CLINVAR:18016 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6cbc08a1-f7e4-4f3f-9dc7-99af26209a8d CLINVAR:18016 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55e5d98f-c25f-4422-869b-f00834f0e852 CLINVAR:18003 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 710793a9-2fd1-46a5-9cb2-4303ceed8772 CLINVAR:18003 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71b2ee3f-928a-4ca1-877c-fd2b1353842a CLINVAR:18010 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5bda628-4c4d-4933-8aa6-a691c4e3c7c6 CLINVAR:18010 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed27575a-92dd-4236-bf1d-0ae4b6354f9c CLINVAR:633211 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f3cb6a3-4722-40ce-9ba3-39db82e01815 CLINVAR:633211 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abaea4ee-722d-4355-90ca-360a0f5c5694 CLINVAR:42402 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa32d379-acac-473c-b7a3-0317be9ecd73 CLINVAR:42402 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3208e5a4-3abc-4c41-8ed2-23df173f5214 CLINVAR:200084 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d0eca53-2c49-4921-8ac9-345075419cef CLINVAR:200084 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8edc12e4-fc7b-49a0-918d-59193c3c7381 CLINVAR:547340 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 91afe2fd-7186-4552-80b6-8b5bd792e835 CLINVAR:547340 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be0d039-e7c6-48ab-a539-3c3605a08dce CLINVAR:429425 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31933eaf-1bb3-41bd-a7fc-e898ad0e7d13 CLINVAR:429425 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a27e810-d8d1-4b47-a50c-703e5fa19ae2 CLINVAR:492830 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30237dd8-4a91-4120-b722-fed63a324670 CLINVAR:492830 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c92c00-99ed-4c07-9e5f-2b3c3f56c7ec CLINVAR:384344 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf30e85b-2293-45b7-adbc-40d7dac2cccc CLINVAR:384344 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af905442-88fb-4723-87b5-0e9f0b98c8d0 CLINVAR:632813 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3325a9d-e26f-43f2-a3aa-0cef20552410 CLINVAR:632813 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0680398-6792-455d-8c09-052627dfcee4 CLINVAR:495644 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aed33430-bb5c-44ef-8d68-ceac5ca3a509 CLINVAR:495644 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f45a069f-4c13-44c7-a9da-3a1490582562 CLINVAR:222610 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d01a3c76-e8b3-4625-beb4-8656ded361b0 CLINVAR:222610 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a2f8eb9-6b01-4c67-9f9d-a7e44e956a13 CLINVAR:36118 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a258582b-8e4c-4a09-a28a-575c35399253 CLINVAR:36118 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f40084-8aa3-477a-bc85-3a874113e9f0 CLINVAR:571222 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ceb5f8c3-6d95-480b-b47e-4c44f5b7aa77 CLINVAR:571222 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6d8d61f-4adc-480c-8123-03938af528bb CLINVAR:423498 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3dbc46c2-86ac-40a7-a025-37f637f7567a CLINVAR:423498 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 112d6ad6-a7d2-4712-979a-cbddc1553ad7 CLINVAR:42436 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28cb38cb-f101-4391-b3f6-05996e642c06 CLINVAR:42436 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c28d5ae-9b7c-4196-9911-9b4c0905a5f8 CLINVAR:381609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a2966b1-6bad-4550-85df-006470c64f68 CLINVAR:381609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1764da9f-d2cb-4af0-80cd-f4d5dd577a41 CLINVAR:16439 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c00bafd-b2e9-4ea5-8e96-71a26282f44c CLINVAR:16439 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33eb7e13-5245-40fd-98d9-c03c9e704529 CLINVAR:42443 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cd083693-83e5-4a32-9da6-1a1d312cab93 CLINVAR:42443 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7008124b-ae62-4100-ae36-072641e1052a CLINVAR:547349 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f3adde4-5125-408c-8442-6af7f4fa08db CLINVAR:547349 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69a9f115-4762-4d33-b392-ab72c899c885 CLINVAR:263414 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8813fba8-1ee4-4871-a8a3-e634a3e5d0ce CLINVAR:263414 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a3393ad-5906-4523-a898-a8e740e80bd5 CLINVAR:547309 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c034c9eb-bd33-4b54-a595-f59f818f2a31 CLINVAR:547309 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1624879a-93a1-495b-a4ee-39b66f2cc222 CLINVAR:519760 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10471d43-f593-4c3c-83c1-a5d2beb351b5 CLINVAR:519760 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c83e9dd-2d9b-4cd3-bdeb-338d9be4db2c CLINVAR:520496 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58230363-35cc-4cf8-a5ae-d439949c397c CLINVAR:520496 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f8cd40c-66b9-46bf-a679-11bff0e2dee4 CLINVAR:618119 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfdd7000-987e-4dcb-ba73-fc3d93a3d5be CLINVAR:618119 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5af51cd8-7e25-4c74-8d8d-9593643a508a CLINVAR:547338 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5b79d95a-bb21-4ab7-a36b-b3518f70c86f CLINVAR:547338 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea0217da-878a-4ab4-849a-76d5a4e43ff5 CLINVAR:1098776 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2b4dd3c-5dac-471f-adf7-6ebf2956e86e CLINVAR:1098776 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea6e7f52-bd36-47a7-bab4-e19709fa43ac CLINVAR:495662 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a44dc295-75bf-4d7a-8cb8-15baf25a44c0 CLINVAR:495662 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b66c0a7-aa84-4607-baab-8d0fe620d1db CLINVAR:1791142 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34ab223c-bcef-4fa5-8f5a-d1a8e19ec88a CLINVAR:1791142 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40e93841-cbe3-46e3-ac14-c30eb7cb2473 CLINVAR:205491 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4cd2afc8-0e6e-4387-ac5a-caf7f5eb8d5b CLINVAR:205491 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f39c3c66-95a1-473f-8c36-6d3668ba88f4 CLINVAR:589694 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b44514ca-bb02-44c9-ae1a-08802fa9cb93 CLINVAR:589694 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2952ce1-6a29-448c-b5cf-aed857fd34ae CLINVAR:205483 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3d6cec2-dc05-4bef-b788-db26f7042ac2 CLINVAR:205483 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdfad6b5-85b2-430b-b999-121596c9b68c CLINVAR:427212 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bf84a0a-3274-43ca-bbf1-9af7c5ab5a90 CLINVAR:427212 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58f71ea5-0980-40ff-ae44-c800b01f93ee CLINVAR:426177 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c12406c1-1d9d-4ec5-b626-8998432f3ecc CLINVAR:426177 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e97b234-5dd4-42de-aba1-3d57d1d258d0 CLINVAR:418711 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdb27ead-7d5a-4e6a-9a6b-950cf7f41463 CLINVAR:418711 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d19da9f7-58da-440f-8e59-03de51a9e58b CLINVAR:2757098 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cefc0e36-7e6e-48ac-a80e-2d90697d5b67 CLINVAR:2757098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ee9377a-a780-44ec-9dea-63202bf44928 CLINVAR:2839411 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb519930-ef0b-42bb-8673-0a9f187cef0e CLINVAR:2839411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bf7be4e-fe75-4aae-8cb1-ecff2964b119 CLINVAR:2701885 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8d2d5e2-d097-4800-83f6-2af0d3f0c983 CLINVAR:2701885 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7965a058-76af-48cd-8ac2-432d3e3dc03e CLINVAR:2029556 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a6c52cee-d82c-424b-ad8d-3b322bdc31b5 CLINVAR:2029556 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e5e1b36-9c88-426b-82c5-64bd02ef1d90 CLINVAR:2911507 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7ce53a1a-620b-41fe-87a6-cac8dc52cd31 CLINVAR:2911507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e70169e4-a796-4740-9cc1-e50b2494fae4 CAID:CA410148059 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 83841278-8705-4494-ac43-628dce87b054 CAID:CA410148059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbcac34a-9949-4926-ab80-07c8dbafda84 CLINVAR:1211932 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63b37837-9449-436e-90ff-38d7313906f8 CLINVAR:1211932 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd6ea1eb-e561-47a4-86e4-5aa31a0cab18 CLINVAR:2840535 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0cd324b6-69b8-4679-9e8f-f5c0db3fb605 CLINVAR:2840535 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6103f6ea-0c7b-4fd5-b6e6-ac7d8be31dff CLINVAR:2808406 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 765425f7-a0bf-42eb-a7c4-418a953a52eb CLINVAR:2808406 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e176904-4c95-40ae-b5fc-92608f830ac3 CLINVAR:2857333 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e080c401-c359-4c4e-8ef6-5cf15e9b386e CLINVAR:2857333 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94c249a2-82cd-4443-9dbc-31af6cd0e56c CLINVAR:2857331 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bfbb02d4-a923-4925-842c-8cf3f324adf6 CLINVAR:2857331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 650fb19c-ff0b-4f43-8946-c69a5e6e5b5e CLINVAR:2746077 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 672978cb-d376-49d2-910b-641aa80d5343 CLINVAR:2746077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34c397f4-874b-4194-a4c8-a03b1bacba26 CLINVAR:2808511 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8c0bdc4-ba1d-4da9-aad9-50a731d750c6 CLINVAR:2808511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe287e2b-169b-47f2-b42d-62a9cf267cfc CLINVAR:931873 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10a60da5-cb9d-4232-95df-fafe9934fa5a CLINVAR:931873 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ca7ba3-9e25-4ffb-a5d2-4078cf746675 CLINVAR:435438 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccb3f5cb-8357-4fff-a7a4-7b4e153b1d74 CLINVAR:435438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b56c6d75-ee16-4631-b53e-c708e748aaeb CLINVAR:447522 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eab2ee6b-2db9-49e6-b2b4-3ffb9a8a1af7 CLINVAR:447522 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a45349fc-477a-4596-8046-08004ec5f5bf CLINVAR:9210 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff36d2f4-bf62-462f-bcc2-a4778b5c1630 CLINVAR:9210 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9847a62-e94a-4037-baeb-8014bc3e9fdf CLINVAR:437910 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69097ec9-274a-43e4-9539-1d7c4e051784 CLINVAR:437910 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b60352ab-8e81-42da-bc88-33ac2f24532b CAID:CA2695217482 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e97ff5e5-d8f2-4065-824a-bc8a899cd48b CAID:CA2695217482 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0007ca10-c483-44de-bc51-ff6fc352e9c6 CAID:CA2695216034 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f700802-c797-4174-9d60-7615f467eda1 CAID:CA2695216034 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 290cf05c-a055-4d2e-b604-cd4a0da3734b CLINVAR:100231 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9a5d425-c378-4bab-99ec-dab802ad9af5 CLINVAR:100231 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a38e0e6b-3f9d-40d8-bd9e-1cdd7adaaad5 CLINVAR:515407 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87295afd-5b4d-4c36-935c-aa0b3d063c9c CLINVAR:515407 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cb07a0b-ef34-4bbc-a9be-b05287c5c4d1 CLINVAR:507529 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f2b9eb8-ad38-42a8-9782-6077482b27c0 CLINVAR:507529 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e081eaf0-065c-4c8a-a3b3-d1285e46d76b CLINVAR:510672 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d158bb39-f24d-4fd8-b018-4f3246f4a183 CLINVAR:510672 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f22a6a0-1b17-4465-bac0-b1c553b7fa56 CLINVAR:193975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa6fa915-8a7b-460b-b2ad-ef8da4b1deb5 CLINVAR:193975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5cae6ea-2bb9-4b7d-91e5-358c9123c937 CLINVAR:864108 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b4e230f-f11e-4d7b-93ed-b0ac8b50fb38 CLINVAR:864108 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f88a653e-6d09-41db-9c02-5f50ddd57acd CLINVAR:642648 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88028a16-b88a-489b-b449-a80e7ee5d0b5 CLINVAR:642648 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52bf25fc-7586-496b-9286-bf0709b62c02 CLINVAR:182963 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa82f818-1641-4f0b-8e7e-66963f5d8221 CLINVAR:182963 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f436eec-3b52-45cf-8b2a-5ee76c04fe44 CLINVAR:12374 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 608c5c0d-9e33-4a79-89f0-4f074aeb291f CLINVAR:12374 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce4f8a69-00de-4dab-a108-9899cd127d68 CLINVAR:376649 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5a52ace-37d2-4222-87b5-49c84de244d1 CLINVAR:376649 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be160d70-ab5d-40ac-8500-e126f31c234a CLINVAR:215996 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86361a24-b009-42ba-ad14-e3351bbaa95b CLINVAR:215996 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4dac966-2746-46ff-b171-3760c81fa33f CLINVAR:12371 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f81214a-132d-40ea-b932-3ec91459f6ce CLINVAR:12371 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a81ea387-4e27-4fca-8cbb-7fb27b4f48df CLINVAR:102645 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7bca912a-0979-40ef-8621-4a1ee88ae531 CLINVAR:102645 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dfc3fab-b91b-4a43-9754-0fea0e743ec6 CLINVAR:102728 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fbf216f-5b41-47a3-b163-744f39f28585 CLINVAR:102728 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa0ebfdf-5de4-4257-987b-21630965360c CLINVAR:102575 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1964893a-a837-41ce-bc4e-e7c58d9216d7 CLINVAR:102575 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2322698-cf58-471d-aece-2b07aeaa28c8 CLINVAR:102895 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a629972e-2692-4eed-bae2-da33b2d57b97 CLINVAR:102895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d7428d7-b436-44aa-9a71-558ac97694c3 CAID:CA16020839 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 77110901-80e6-4dfb-8980-287cbdb29350 CAID:CA16020839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3091349f-e530-4816-adee-348789f17ae0 CAID:CA16020814 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8af6a0f-e970-4e6b-95cc-f95348c16e79 CAID:CA16020814 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b9b0605-8ddf-48de-87d9-60222ac1601c CAID:CA16020783 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c97d988-97c0-40f1-bad8-7aca533b8c16 CAID:CA16020783 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2362b2d-126d-43bc-977e-830059aa0551 CLINVAR:252114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ce56987-899e-44f3-abaa-b45820f0628a CLINVAR:252114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 327325c4-40b6-452f-af84-c6ab4c0a8813 CAID:CA1139655403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e78f74ff-c021-4eda-93f8-6a6c04129e15 CAID:CA1139655403 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b87cf084-f738-48b0-afdb-854ccb4461e2 CAID:CA386965322 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76ecfb2d-263e-416d-9f9f-c14673cff441 CAID:CA386965322 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61b5611c-a322-47c3-b5d6-a9dbd729589f CAID:CA386958847 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 457e18fd-2803-4161-b9e8-1f7d015fdcf9 CAID:CA386958847 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecbbb494-2413-47ad-b509-93cff497cedf CAID:CA2837589098 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b92d392e-2b62-47fe-b978-06510831ea80 CAID:CA2837589098 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32bdd4c2-9358-46d7-9bd6-4c53ec2d5f38 CLINVAR:972751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0319ec2b-9293-4023-ab26-591fc4c19a84 CLINVAR:972751 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24be4682-8186-485b-916f-6dcc0e9dde53 CLINVAR:2746579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e91856c9-64a6-4384-a04d-96cc72039190 CLINVAR:2746579 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7572a401-b928-4fee-9f53-576e380a3bdc CLINVAR:1398400 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99a03bd6-aa63-42a9-ab0f-a739f3025579 CLINVAR:1398400 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3ae7172-2027-4344-94b4-fc6b8416009e CAID:CA409106119 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e128017-37cb-4f4c-bd6e-1fa0c52ff002 CAID:CA409106119 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ccafa08-2cdb-4384-bea9-9d7e30fc41ac CLINVAR:586009 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee4a0356-d55c-447f-8b06-d859dcdf5fd4 CLINVAR:586009 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f241a13b-9416-4299-b326-b6a5f777b46d CLINVAR:977222 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37e32725-f6a7-49dd-a700-0be546ea91e7 CLINVAR:977222 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36818631-dfee-4f35-983c-3755a5241e77 CAID:CA1139655404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2115894e-f8f2-4cfb-9506-cfd103f3a029 CAID:CA1139655404 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9c4bf1d-8455-4d36-b832-37076a72af92 CLINVAR:425733 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7fefea43-0862-4dd8-a457-e2c6089f7ff3 CLINVAR:425733 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3712b31-c8ab-40f4-8134-f5a9dbabb254 CLINVAR:425842 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 92614a5d-000f-40fd-9c90-85b37e7be669 CLINVAR:425842 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e856e0b0-149d-474c-b276-0f38b1eeec42 CLINVAR:425844 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7c5abf9-d698-4d74-b83b-25539b896419 CLINVAR:425844 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd4cfdc5-58e6-42e4-af60-d61aff4e5677 CLINVAR:2854758 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d368460-38ec-40bf-926f-18799f45cf26 CLINVAR:2854758 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93ca251e-6308-45a0-b41f-35a011381d3b CLINVAR:2635335 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60276620-8f39-4f3a-b9ad-d76d2c6c2e3c CLINVAR:2635335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bef17867-b5b0-47fa-a0e7-99e5b44f338f CLINVAR:2820865 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 958d8b6a-9902-4ee7-a701-fb3d2c7c1de0 CLINVAR:2820865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82d34dc2-0891-444b-8dac-e91414e3d1d4 CLINVAR:2759299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9286bdf9-0144-4782-b76d-568ee41cdba4 CLINVAR:2759299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 135d0564-ed55-43d8-84b7-6057d14831ff CLINVAR:2705087 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f73621f8-bc16-449d-81e4-8966992f91b3 CLINVAR:2705087 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d9b4628-7e65-42d4-892e-f44888dbde13 CLINVAR:2101398 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81a20929-e175-4382-b435-707dde1265f0 CLINVAR:2101398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a7e0765-e535-413c-b5c9-a7a4ffec5f03 CLINVAR:2106464 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7c6af0e-aea2-4eb9-a027-696706cdf1a3 CLINVAR:2106464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cb13eb0-9d4c-45cb-922d-c774496cac8e CLINVAR:2579542 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 426c0b9f-c892-4305-9d51-d185f6623612 CLINVAR:2579542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 542c4765-b540-41d4-bd48-79b6e8ee276f CLINVAR:2028205 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18be515c-5136-453b-9da1-f586a498f243 CLINVAR:2028205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92fa67f1-716d-4b28-a71f-3f3a063af9a9 CLINVAR:2008798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 51a74158-f394-4a75-a780-3f9259f34c00 CLINVAR:2008798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fc7d3e3-3b22-4a6f-9848-bcd0ec227d14 CLINVAR:1684398 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 646314ff-82f2-4286-90fd-d52a1598be22 CLINVAR:1684398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 176e3056-d35c-4e96-82c7-6bb3074ceff4 CLINVAR:1460663 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fcc7750-2643-47b8-be79-871e3adec1c4 CLINVAR:1460663 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5267b2ee-fe26-480c-830f-ae7610903575 CLINVAR:1338564 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e8538f3-57b9-40b7-8cc9-29f24523a20f CLINVAR:1338564 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cabbee2-e627-482b-89b8-fa58c2bc88e3 CLINVAR:1041897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2fb331b-2b69-4b78-8703-b95aac48e58a CLINVAR:1041897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec9c1d10-64d2-44f5-b1fd-3400302111de CLINVAR:1045299 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a5f9b87d-46a6-445f-a10d-4b4431cbdfcd CLINVAR:1045299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c252296-c4a1-413a-a200-9c468f12bc75 CAID:CA410207977 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 771ba596-bbc4-4a38-bdc1-948031b74126 CAID:CA410207977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c82d22-f3a7-4e51-9e02-2cc336571121 CLINVAR:2092471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 038790cc-c14a-4e88-b01e-300b729dec8c CLINVAR:2092471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfcda1df-98a3-408f-bffd-f6881447d558 CLINVAR:252115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db025850-b008-4f2e-a6d5-1e1315f783f1 CLINVAR:252115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51a39388-19ef-4b9b-9204-f0f552eb3c10 CLINVAR:205591 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 820f7fae-029d-446f-92df-1e74ecd19467 CLINVAR:205591 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72708b1e-110e-4cc7-8169-bf1aa321aae8 CLINVAR:2137773 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0882316c-956b-464c-9c5e-e2249b1df1e6 CLINVAR:2137773 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf2b4a06-41f8-422a-a7b2-a656cca85ac0 CLINVAR:205582 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42467cfd-dab0-417d-a8a5-e745985d0417 CLINVAR:205582 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b85d2df0-9b82-4acb-8bba-e302ba91d520 CLINVAR:2815164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32670b57-b494-44ea-8cc9-e06d72c3675c CLINVAR:2815164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbce5562-608a-4f43-8805-18d6ec1e2c8b CLINVAR:1142221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 540d0980-35bc-4229-98e7-4178d1f0f2f9 CLINVAR:1142221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7488816a-68ad-4ad6-b0fb-cfbf559215a5 CLINVAR:2042433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8bf358d-9ac2-436a-ab0b-b87360ad5727 CLINVAR:2042433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d96f414e-e86a-4792-ba1e-8a7908173208 CLINVAR:1473511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f904ab9-09c4-44b6-9a2c-9b8abb5a8ea9 CLINVAR:1473511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d8d27b-a19d-4133-9bc6-eea0907c8d1c CLINVAR:1349433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cb76010-a44b-42d7-8fd9-0d63bef04c4b CLINVAR:1349433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c05bbd6-febf-48d0-9a7a-1cf9b4f99b1c CLINVAR:2769013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79fb704a-303c-4c30-b36e-864c3930763a CLINVAR:2769013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9c431de-84ff-4c54-a2c2-f8fd43aa0149 CLINVAR:1967828 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d22a6caa-05a4-4eb7-9d9d-4a941bd4648d CLINVAR:1967828 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf9acf41-ddb8-4722-8f60-a4e1392438f3 CLINVAR:2958710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e311664-8f81-47ce-b2ff-19d083e79e0c CLINVAR:2958710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d60c7d0-efaf-467d-9780-8ccd660abe7c CLINVAR:2912699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f284c5c-da9e-4b82-b9a3-174389d15af7 CLINVAR:2912699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e58ccb84-910a-4a6d-b07b-2222b4782065 CLINVAR:2825312 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75011863-c56e-4e26-9c21-90a88414aaa2 CLINVAR:2825312 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 074c228a-1cd9-4b28-8ff2-9186081f40f1 CLINVAR:2763182 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce1c7e66-d690-408c-a059-5b62282263d9 CLINVAR:2763182 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f24399c7-4305-4a4e-ae2b-18afcbdf0b88 CLINVAR:2807004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab700df6-431b-4c14-a06a-b759082511a5 CLINVAR:2807004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca14deb7-917c-4d3a-b4a9-0136ef7345ea CLINVAR:2737781 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 682c407e-dbbf-41fe-b878-79bdd55de7c6 CLINVAR:2737781 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df41061e-c62c-4d87-b1b5-4a71a3584167 CLINVAR:2737296 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55675c15-abdf-4ba5-be19-f9b31c1ca107 CLINVAR:2737296 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e5ea89-7c00-48ec-a5b7-a2d3e2569d05 CLINVAR:2917126 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7570b27-8df1-466a-81f9-e037ae45f3b3 CLINVAR:2917126 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2081e087-5474-4b5d-a578-60e63c31eec2 CLINVAR:855888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b923c932-9c51-46ea-9519-f695624ef1e9 CLINVAR:855888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a13bc0b-87f9-4993-9aba-e97f73961384 CLINVAR:2695627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fad6632-08b3-4d17-bac0-882404c5eb87 CLINVAR:2695627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10294b9e-05ff-4af1-acf8-e43224fdeadc CLINVAR:1002574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dadce6d6-7f50-486f-8450-6bd91c4db6a8 CLINVAR:1002574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a908b9c0-8c54-4ed9-96bd-bab8b0915be7 CLINVAR:1487422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0803898f-bbfb-4a58-883e-3a41480cc669 CLINVAR:1487422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f55106f3-5d35-4c6a-9a54-f658836b5a12 CLINVAR:1006857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f203dcf-af9a-413f-b70b-88b45ccc78d3 CLINVAR:1006857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 735fa7f0-a0fb-45be-84ff-98c232e742f0 CLINVAR:2725991 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 802ac1fd-6f14-478a-8632-4b3395e08150 CLINVAR:2725991 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b9604df-6ce9-426e-a66b-621328647722 CLINVAR:2916977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1777271d-3684-4567-a246-9f398f263158 CLINVAR:2916977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb5f6897-1808-433b-8bf5-dbbe698eaeae CLINVAR:2823780 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da1df223-ad6b-40ce-94c5-fa2f85f6a140 CLINVAR:2823780 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0657c1f-d16b-4bbb-867c-758b4058a898 CLINVAR:1363734 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05d22927-0248-42a6-bbad-6f69d81f669e CLINVAR:1363734 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd5e4ca3-fe75-4975-abbf-171dbdaf93b3 CLINVAR:3009082 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 582e1b0a-a7af-4791-a52d-b69c01b4b88c CLINVAR:3009082 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cbbab66-921f-4278-8f85-d31dffe8780a CLINVAR:1507948 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8a86d80-7448-4d78-b266-029888edfee8 CLINVAR:1507948 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3ebbe2b-dc36-42fa-8797-ebbb3937cbff CLINVAR:2734274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63b28129-9459-40f0-acb7-462381e6da8b CLINVAR:2734274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2765fb6-4d48-4762-adf9-1dae0fadfec0 CLINVAR:1470171 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2f4bec7-2444-49d0-896f-7a4f91dec40e CLINVAR:1470171 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c1d3079-5265-4fc1-9541-83869c3eef47 CLINVAR:2718142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe65590e-b6f7-42dd-8e20-4f4aa54a2e88 CLINVAR:2718142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 813501a3-c329-44f2-8291-d0f77cd2f1f5 CLINVAR:2630595 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14d6d578-792a-4356-920d-31aba30e2c59 CLINVAR:2630595 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9942a0b-5a79-407e-98e9-090e822cac72 CLINVAR:2972103 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e6d87df-c5eb-43a2-87f2-541279bba656 CLINVAR:2972103 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5362fee3-b06f-4e86-b7d7-85102a497495 CLINVAR:1400931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04b0d72b-9bba-4446-bfbe-84b4116df0c0 CLINVAR:1400931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df666801-a1fc-489c-b623-7c43260b0656 CLINVAR:2850045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8bf2116-bcdc-4199-963d-2fb4a7f0d135 CLINVAR:2850045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 594d3298-0681-4dbd-87ea-21405f6205c9 CLINVAR:2716140 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 705eb056-4572-4ef2-857e-cb5a39472cea CLINVAR:2716140 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c892a2-f6d3-4532-96b9-ed12923fc0c9 CAID:CA2830665544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1587ddcc-9b27-47af-ba27-e83fa668ddca CAID:CA2830665544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a21699f-7224-466f-8418-52fc8e44357b CLINVAR:1463552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0edc9f59-f305-4473-a9f6-45c49cc5b8e2 CLINVAR:1463552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38e7fcd8-9665-4aa2-ba52-29e0ffa0ba18 CLINVAR:252173 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2146b70-27a1-481d-a5f4-da6d2fd3cbc9 CLINVAR:252173 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d66a6335-3b5a-4cf9-ad1c-8627fb726651 CLINVAR:3712 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4d5d4cd-1f3a-4a48-8e50-c12386a621fd CLINVAR:3712 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40874ded-817a-4f32-b6f2-05626830cf9a CLINVAR:2637205 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c11ffef-88e3-4924-83fe-1ce8f7288b5e CLINVAR:2637205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a032673-fe3c-4234-bc0c-36be87329005 CLINVAR:2730931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd9fbf2f-808c-4690-98f0-c428a56b4c53 CLINVAR:2730931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5450046-40f6-4a92-8d8b-0aa406be209e CLINVAR:2764958 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c57703e-d487-4edc-991b-bec17dcb2070 CLINVAR:2764958 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dcbdf29-725f-46e5-bb43-e5f34a5cf967 CLINVAR:580765 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de2d91d4-0389-44d6-a5ef-48888f707946 CLINVAR:580765 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40f69042-61a0-4749-92ac-2273170cee0e CLINVAR:1057975 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8f1ee51-c332-4f2e-a33b-f250ca14850b CLINVAR:1057975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbd3f04e-fb8e-40b1-a836-75d3eed07af9 CLINVAR:1438740 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2cec78c-f5b5-4577-aa1a-71dcaee35058 CLINVAR:1438740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed43dfc-2e7b-468a-9cd0-ec5f8252d5bd CLINVAR:812738 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfc27978-af3b-4809-aff3-6c3369ad7167 CLINVAR:812738 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd5b9baf-9beb-4901-aeca-c65e85337035 CLINVAR:942577 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7ffe3d6-23eb-4a8d-b8ca-ffdbd6ac26d5 CLINVAR:942577 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ee52af9-7960-43b1-a9a2-90d5bb9f851f CLINVAR:1437357 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ece24d7-f60a-4a43-933f-ccc3ff117f76 CLINVAR:1437357 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb8e7c86-f30b-4213-88ea-394fc2a0e5c7 CLINVAR:463999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d63a614-4d81-46b0-86a4-9c0a2e21f8ec CLINVAR:463999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e56cef1-74f9-4cb3-bac1-282b3f7b6a23 CLINVAR:463977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df473b35-dccb-44a7-b402-470edf8c5319 CLINVAR:463977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb37f3a4-4ab0-4204-b64a-9c26d83e48d7 CLINVAR:3340471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20206adb-ca6f-4d4f-bfa8-1a7ae5e75689 CLINVAR:3340471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c24e9609-b911-4289-bbf1-c538be2bc1de CLINVAR:2846862 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 646c117a-c931-4987-803f-3b2207049dda CLINVAR:2846862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92e3212c-677e-4802-aaab-e190472eaa94 CLINVAR:2719217 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8be34281-0af0-419f-aadc-0da8176a815b CLINVAR:2719217 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2af3609-915c-4b2d-960c-20ecf24f6859 CLINVAR:897094 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cba5faed-7dec-4b51-a314-b1dcc2ebbd62 CLINVAR:897094 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f066687e-4ee2-45ee-9c64-48e6134e81a3 CLINVAR:2743644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3e658d4-516e-4155-9009-75f04abe3d88 CLINVAR:2743644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0c61aa0-d402-42f4-b544-48e5e518a770 CLINVAR:2789785 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1e68bdb-f69b-4d7d-968f-9cc85e5b3c08 CLINVAR:2789785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88edd297-bcb5-4f19-a980-fa391558d460 CLINVAR:1014373 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce52cc2f-bae5-419a-b8f4-dd5ea266b28b CLINVAR:1014373 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 771a9a13-f597-4ac0-bdce-65130f2e7c32 CLINVAR:339798 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a42ed14-ea5f-4214-910d-755979d808f0 CLINVAR:339798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e46dadbf-e421-408e-8fad-d20d1582a4e9 CLINVAR:2678494 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8b4a1c3-ddf2-4df5-94fb-e30771d72862 CLINVAR:2678494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f548f1d1-17d1-49ae-a7de-5f59d1732a56 CLINVAR:2993180 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bca9491e-be50-4560-912b-5bbc15c5d0f7 CLINVAR:2993180 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25caf633-05b5-4f34-9ce9-c0cabe74b991 CLINVAR:339819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e35be47a-ddad-4f0a-942c-80c26834dc02 CLINVAR:339819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1221cdd5-4992-44c3-9887-e4870053a89b CLINVAR:2769330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a44ec5b-9cf7-41c0-ad06-79dbd16901e2 CLINVAR:2769330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fac93dde-81da-490f-ad34-abf7171cb35d CLINVAR:2805900 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3779d9c7-5746-47b3-81bf-f5a5907ba448 CLINVAR:2805900 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bc4e2dd-f919-4644-a9a4-b0adc4c8cca6 CLINVAR:2696801 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5def24e3-79e8-403d-87cc-f69147a9d6c4 CLINVAR:2696801 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 176c590f-6e52-449e-94ac-f17259f50985 CLINVAR:2826469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8f6ec0f-8c92-4192-b79c-cb3a07fdfa47 CLINVAR:2826469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d78a372e-ece0-4d13-a1ff-589ff3dfaf0d CLINVAR:2839110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31d9de85-a292-4330-a26d-e5bd6eee6281 CLINVAR:2839110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c994fd2f-f625-46b0-a261-af3b78c0aa85 CLINVAR:2791325 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f27bd339-c4b1-434c-8048-6364e68e393c CLINVAR:2791325 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d501e1e6-47f4-4470-8061-97dd966f2a5e CLINVAR:3017323 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43aabd44-a7f7-472c-ab01-182b78916aff CLINVAR:3017323 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af0c0d9d-2e2b-4e17-a756-6661de3dbfcf CLINVAR:2814028 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0682d1c-ae88-44ca-8300-dbb545b5d0bd CLINVAR:2814028 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a1885e5-8a65-4ef3-9f8a-5e25f78f8ce1 CLINVAR:2852638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d442b44-8d09-4df8-bf30-291a19fc0c32 CLINVAR:2852638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5057bb15-1ad9-4e56-a6c3-b1736305b6d3 CLINVAR:2699552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 100fc5c7-3c2b-491c-9e42-dcc1b96300c6 CLINVAR:2699552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c379091-bb6e-4314-9213-d5590d599ee0 CLINVAR:2662455 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34e28406-f6e8-43d5-8b2a-ee18618ab647 CLINVAR:2662455 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11cedd0-911b-4e5a-a0bb-57c13e0f49f7 CLINVAR:1362194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c7e2635-b2e1-4948-b807-574428a5c63e CLINVAR:1362194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f70c6363-b841-4e3a-9575-64864edc6c96 CLINVAR:2021813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56f124a5-89b2-4449-9a72-c7344f1827dc CLINVAR:2021813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e10aef6e-f48e-4279-aa3a-57633da11a1b CLINVAR:1388634 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f86248fa-ffd4-4685-8267-b58a5504c838 CLINVAR:1388634 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e35d611-01e3-403d-a364-a5a516e6c39f CAID:CA2830665545 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4945f279-23cf-4925-82d3-4ba8e28b1e50 CAID:CA2830665545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7e0f9a2-a02e-43a2-9694-32d9830a7009 CLINVAR:3241647 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7bb0fdf-cdad-48d5-8d0e-f52e0162c2e3 CLINVAR:3241647 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31e38e08-5e8e-453c-b288-d4db76ca6efe CLINVAR:180142 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1102ebd-c8d8-4bba-a765-84785edfe210 CLINVAR:180142 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05deffa9-1eea-4411-af09-46bc69f6ffd7 CAID:CA409104130 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 116de78c-ff6c-4c8c-9c4b-45fbf2678c2e CAID:CA409104130 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 964c9d9e-b98f-43fc-9d39-41d485c948d2 CLINVAR:586023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e89bab08-1023-4a25-bdc8-1405fcd7f316 CLINVAR:586023 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad5df6eb-21b6-4d4f-93c1-23e0f7648fdf CLINVAR:660789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b02de81e-9e59-4226-a20e-a532fc5bd540 CLINVAR:660789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8103ae2e-1048-47b9-a57b-4e9620d6e728 CAID:CA1139655402 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e72e089-4f68-4dbf-a594-02837bf63eeb CAID:CA1139655402 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85a0b14b-1802-454c-abbc-64f10a71f7e7 CLINVAR:950322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62f77791-0fdd-44ed-9809-276c333f82ae CLINVAR:950322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b4709f7-2b11-42bb-ac4c-2b0c21989097 CLINVAR:639328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57f89aaa-100b-4a71-a26e-b6c62e74fd2d CLINVAR:639328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 340cdc97-d081-4292-a5e6-4dd492ddb242 CLINVAR:1315930 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6f33ce2-9437-4685-82ef-49dc62cad60f CLINVAR:1315930 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bedb0c6-986b-40a8-84ca-334021542e5e CLINVAR:1973721 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 752dce2a-9e0d-4707-8f05-e4c0de2f325f CLINVAR:1973721 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8de5c307-c250-4478-a900-57eeee58408b CLINVAR:1684386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d211f7a-7ee1-422e-bc8c-6cd3cd742cb2 CLINVAR:1684386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914bed32-8ca6-40af-88f0-bcb31676de1a CLINVAR:1064169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abfda1d4-3ebb-42e6-8a5b-fd48392083ae CLINVAR:1064169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3943640b-e86c-4d94-832d-21aade5f92f5 CLINVAR:854013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1342f76-af89-4619-a85f-86a1fa9d1afa CLINVAR:854013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35917707-dea0-4435-bb8a-85f421ace564 CLINVAR:859484 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 763c0bd3-c54d-4f8d-b5cf-36113f06350a CLINVAR:859484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7199267d-f6f1-4a58-afe3-f7cf00dd8625 CLINVAR:2718511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ea968fe-9404-4ded-9a67-1d7c2e50eacb CLINVAR:2718511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3af7740-a989-415f-b6c5-97fb8d52703b CLINVAR:1506422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen feb37977-6b77-401c-b913-55b4f84a9377 CLINVAR:1506422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44cedbc3-96d4-4bf1-8744-1e331909a9b7 CLINVAR:643883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e59b862-d746-49bb-a72e-250153c9484a CLINVAR:643883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61afa780-4bd8-4760-8a9b-b9acef4ff174 CLINVAR:1485668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7917e03-f78e-43e8-af8c-58cf1fd920f8 CLINVAR:1485668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 683a864c-19dd-41bf-a8ab-5f9893a6c361 CLINVAR:949250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 35352ec9-520f-47b2-ae2e-9af0c9181254 CLINVAR:949250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 719bc88d-6f5c-437b-a780-ac732aa6306a CLINVAR:1065582 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7d9b4d2-d4b9-4c53-b88a-7bf6f1ea07be CLINVAR:1065582 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8935ccd4-2636-4738-a691-07830fdb0e8f CLINVAR:2435494 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81a87bd6-421a-4ff2-8b99-4a472347ca9c CLINVAR:2435494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dcbe9d7-bb86-49bc-96c8-83eddeefd245 CLINVAR:339800 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0869a4d8-54e9-4e44-b583-94e7967ee349 CLINVAR:339800 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4ca6f40-3081-4a79-84a6-f51ca7ac80cd CLINVAR:576865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30a98d71-59a1-45b6-92ac-3663b4439410 CLINVAR:576865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd2a33ef-d1e9-44de-be98-ddd9ade000e1 CLINVAR:971769 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e068530-8031-4eb4-8a4c-b34ddf4ae7a0 CLINVAR:971769 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be041b3a-41d1-4fc3-a34c-70383d54a675 CLINVAR:840423 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36dce733-d252-4ccf-a6d7-fa591340b7dd CLINVAR:840423 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 359e105c-cf8b-4e44-aeda-1ad4b15c588b CLINVAR:1009408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc460762-b360-4626-be49-f3075af55ac7 CLINVAR:1009408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 822adb85-902f-44d3-aea7-6b2d0467034e CLINVAR:995686 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0417688-693c-4b00-b617-c01ce5cb89db CLINVAR:995686 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88ae80f6-3c79-40af-83fb-cda3d9cc6c4b CLINVAR:213212 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 533154e1-3a03-4670-92d7-bf63317271c7 CLINVAR:213212 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dde1aa8-637c-486f-b20d-08e0342ace15 CLINVAR:425876 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb99afca-3123-4cf7-85b9-17c6ec6b2be8 CLINVAR:425876 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90506c47-a44c-4cd7-8e7c-739f7ed74631 CLINVAR:425702 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93ff8ed8-b828-47d1-996c-288749e6274f CLINVAR:425702 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9468960-ddce-4955-8b08-4bae903b138e CLINVAR:425864 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 672c1154-e391-4ebe-9f55-5141ecf7cafb CLINVAR:425864 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1388c58f-32b4-4629-b245-794b6059ba99 CLINVAR:389672 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3b4fced-c0ab-45b4-b1de-cba0ce58bf75 CLINVAR:389672 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7b8070-79f7-4ba5-9b1a-f1373eeb1087 CLINVAR:1940407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eef0c7e0-0c26-4a93-9f55-0e2f6c7e9d7c CLINVAR:1940407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f22b76ef-3743-427d-9612-c3aba839c010 CAID:CA386959765 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f66c8537-9bde-4d56-987c-b6e52dd2264f CAID:CA386959765 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d252cea8-ed16-4212-aa39-486b7a9c86f0 CLINVAR:1338462 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89767b84-c6a6-4443-95ab-4b7ab436caa5 CLINVAR:1338462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcee93de-f894-44b0-a37f-22ade84fb6c4 CLINVAR:252096 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac2f07e3-a277-460b-a8dc-8a57e92e65b3 CLINVAR:252096 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aeb8c8e-7704-4390-a4a2-d16ee52cc630 CLINVAR:161284 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2631ca65-cbe0-4b49-940a-e406c8fdbf4e CLINVAR:161284 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d03798b-99d7-48a0-a88e-066530f33ad8 CLINVAR:251845 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30f65edf-f827-4f82-bcb6-2b38b7ea0b30 CLINVAR:251845 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62e69ea9-6284-4be6-865b-0abce772df50 CLINVAR:251844 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b19bf688-acb9-4de4-b080-e286780950c1 CLINVAR:251844 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc62e13-75f4-4117-a7e7-61e547b24b2f CLINVAR:251846 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c5d67a3-6817-41d1-b810-338b2f7026c4 CLINVAR:251846 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a68f3a7f-3a55-4f26-927d-e71d6dae79ff CLINVAR:189297 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e4da1f5-ff8d-46d2-b46a-1587bce919fb CLINVAR:189297 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36362def-e706-4c7a-bbcc-7b5b0ed2b3da CLINVAR:438325 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b8bf6c2-f3ba-4241-a9b1-048fc55b3de1 CLINVAR:438325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d649ac5-4b1c-4fdc-a7b2-e53c1d8eebad CLINVAR:375822 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1b1fd1a-a610-49bf-8123-bf1a1eeba986 CLINVAR:375822 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19e5a180-9658-4bd7-b928-789283d5fc4a CLINVAR:921461 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58307f9c-130d-4ddd-8d15-3fe5437aab77 CLINVAR:921461 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 254419c1-3680-42b9-9c9c-b0554b4bd57a CLINVAR:251881 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a7f0fe7-cadf-4ee6-810a-93791697545f CLINVAR:251881 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d3c1885-18cf-4ff8-b542-75f6985d8fa7 CLINVAR:926176 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca3326a5-ba62-41b6-b401-73038a60846f CLINVAR:926176 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4074eb3d-81f2-4534-8e82-d4d968d6421d CLINVAR:251249 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8757df2e-8c3b-4a54-a5b6-7a936d1d605a CLINVAR:251249 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab8d3a8b-aa2d-4664-8c6e-9496ad2e9ccb CLINVAR:251252 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c179e2ed-624a-4601-86ff-9fe0e30e81c9 CLINVAR:251252 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3161e274-94bd-4671-a3b9-862588f0363d CLINVAR:183089 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3eaa000-29d2-4d0e-b4e4-31763cc58efe CLINVAR:183089 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d385abd1-0efa-4aa4-8424-e7cec89a7218 CLINVAR:209088 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3dee1f34-b1b5-4bd0-8e0c-3d6c67a20970 CLINVAR:209088 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f056e62-a61c-48ba-9b27-369b0f0b076f CLINVAR:289969 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d374d8ba-85f8-4a38-b909-e701360dff94 CLINVAR:289969 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9f681d4-4fa2-4494-92ea-08f597873a5b CLINVAR:373089 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1600c086-ec50-4586-9bd4-62beb8e68334 CLINVAR:373089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42f0ff00-74ab-45dd-a5a5-896e908b1627 CLINVAR:9447 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff04a617-4482-4b47-a509-5a2cc3fc5dbb CLINVAR:9447 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1d3fb3f-95bc-44db-8fc5-e44f6c8e3b3d CLINVAR:626912 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8ef2898-46ef-4d91-bd81-41f0f1ec36d4 CLINVAR:626912 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08f0e0be-3d1b-450c-9296-2a89381f13ab CLINVAR:222971 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 786fc7c7-2a49-44ac-aa3b-468b5d58ca54 CLINVAR:222971 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ecdd28f-2ce8-48a5-9645-da728f5940a9 CLINVAR:13902 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3af829c-48f1-4889-96c3-8dd6e8515c78 CLINVAR:13902 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 660e7057-9876-4316-a4e4-a5b223e03594 CLINVAR:1319383 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01f781f6-107d-47e7-85f2-af9342f927b7 CLINVAR:1319383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b03af0e6-0e53-409f-af00-8aa3cf71d6f5 CLINVAR:2121544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b1e1673-9936-418e-beda-d9b716d3e815 CLINVAR:2121544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84b37918-f465-4352-8f15-eaee8c9cd98e CLINVAR:864271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ec7a260e-7bbe-4683-a997-4208668c0e8b CLINVAR:864271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92d57804-7cfb-4d67-932a-97e959d3a8b5 CLINVAR:1435320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d86cc6fe-3c3a-4738-999a-d429a5bdc0e6 CLINVAR:1435320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 395df910-2a91-44bc-906d-a23eae98cd9e CLINVAR:582967 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 950e573d-c848-4227-ae66-107185ac77be CLINVAR:582967 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c624d23b-13cd-49a6-a101-fdd85a302cec CLINVAR:2038636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e047fdf5-db83-41bb-82cc-19b56d8801d5 CLINVAR:2038636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbd179a4-d250-4622-8ff2-7c174fc3695e CLINVAR:2115774 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb6d42a0-a637-4db6-85f4-a7aa76419d76 CLINVAR:2115774 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2988e50d-18a5-43b7-ab7f-621381d9ec5e CLINVAR:846424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e42ff88-f22c-4a33-8162-5a9fe57740c4 CLINVAR:846424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 258c5655-43f6-4717-84c8-376018707837 CLINVAR:1365004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6cd3b70-d672-4977-b63f-1da3c89055e0 CLINVAR:1365004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39c2ea8b-c554-45b6-8bc9-8ed0d21b308f CLINVAR:937279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9890a6a4-bfda-4cd1-a71a-a4fcbf19bc4c CLINVAR:937279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd528023-2edd-4984-a475-4ee9aa543e2e CLINVAR:1485224 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62ff4463-f156-47ed-ba8a-913758a5879d CLINVAR:1485224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db591cb4-44b1-4a28-85e0-e38393b26bc9 CLINVAR:1018068 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61c33e69-ac3c-4de3-9e53-e07478dc82a0 CLINVAR:1018068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efe4c6e1-688f-4a6f-bba3-f3c37409a9d4 CLINVAR:1368262 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08d0403f-4e57-41ad-bfc9-8cfe19f03a50 CLINVAR:1368262 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f9c9025-a807-46e4-bdb4-c3a8be601609 CLINVAR:409811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7c66900-b368-4ce9-8552-42617f7eb47f CLINVAR:409811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9355e2aa-b590-4bc2-9a92-dc894977872b CLINVAR:1483319 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee9f4418-9739-4a04-bc26-4c0ae8fe5991 CLINVAR:1483319 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b97fbd6f-fda7-4c95-8808-7432d1f24e3b CLINVAR:1457387 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47a6f495-d5f2-4ed0-b9e6-d38cf2a643f3 CLINVAR:1457387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 073a9b76-5341-4c9d-b03f-68f8b20525bd CLINVAR:409812 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65d640dd-2f57-4e34-8a5e-eadea0d746b0 CLINVAR:409812 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a3fd8c1-a549-433e-bc4e-dcdbae559664 CLINVAR:1509019 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ce41b9c-2f19-484c-a65f-bdb7c8913ca2 CLINVAR:1509019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4da2bbd2-97b2-4b5c-a034-88d45b2c59ee CLINVAR:2041194 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03c91520-cf2f-4323-a0ae-453b25874c93 CLINVAR:2041194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ce8f36d-5349-4e1d-bc7a-52a0288e375f CLINVAR:858173 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5b62f4f-45cb-4404-9103-2fe6d8d65f89 CLINVAR:858173 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00a0bbb8-e649-41d1-82b4-e5a18506bb5b CLINVAR:1949129 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f927015d-864a-45b3-b012-b94645db22f7 CLINVAR:1949129 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a364efd-b531-4efe-acb7-5c7c5fcacd66 CLINVAR:1003366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52e6dcc5-3028-437d-8fa3-d2afb967b9f6 CLINVAR:1003366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e65748f-2c68-4ae9-9ddf-0b3811530f34 CLINVAR:1514219 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2869a4d9-571f-4dbc-97ee-dbb0990ca71d CLINVAR:1514219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65a3e7e7-5ce8-4660-a7c4-c8ca5d571ebe CLINVAR:1512969 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb6f571c-e9fe-48b4-87d7-7b1df299d9c1 CLINVAR:1512969 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19196374-b44e-4589-bf29-cf3d71c1c81d CLINVAR:2003504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38745ad4-cafd-422d-a08a-079ddc7820dc CLINVAR:2003504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 553dab70-1219-4096-9541-b81c8db98dec CLINVAR:1001532 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02c16304-9301-49a1-ace5-e3478e90f80e CLINVAR:1001532 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac774c9a-dd87-4c9e-8a1e-98e72ee2ea1d CLINVAR:1507291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c14bc2d-d53a-4db4-9c1a-746f89e85410 CLINVAR:1507291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 722ac70c-8031-4026-835a-4886109d13b4 CLINVAR:1058050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a75fa0f-fa04-4680-8a60-ca075f406f86 CLINVAR:1058050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f73621-b0e2-4686-b329-bd76ca31db4f CLINVAR:2465691 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6330ee9b-0f19-4755-b153-6d5fa04cecab CLINVAR:2465691 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12bba523-c314-4ded-ba8f-642f1cbc7f34 CLINVAR:967043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 90b6085d-c541-465b-a325-ae3a135c6dce CLINVAR:967043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce6c89a1-ae01-4280-a4fe-a6a62479a84e CLINVAR:1018620 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83bdf271-fa50-46c2-90e9-8b9cbc36d275 CLINVAR:1018620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 533c4324-b306-41e8-9f4c-f370025ef52f CLINVAR:464012 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53ced98a-eb89-4e9f-896e-7304c21da4ed CLINVAR:464012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f53ed661-d2f0-4e20-8245-c034bb6d1b96 CLINVAR:1392067 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50abccc8-7e8e-4a75-8a66-0f3cb2713a57 CLINVAR:1392067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d447c255-a0d6-4389-a93d-3312bd727f7f CLINVAR:966213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8538df8e-7209-4abf-a4cb-dd3dfc7a5cc3 CLINVAR:966213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6ce44c-7560-483b-9b9d-b53592804187 CLINVAR:1351602 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bce1ca7d-2937-47ef-9934-674be745d485 CLINVAR:1351602 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fd10549-63f7-444e-bb7b-2375a9c31e73 CLINVAR:851830 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2fc739c-b83d-4971-b31e-325a996e7f0b CLINVAR:851830 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11ea372f-e6e0-4f43-813d-9a8a455b120b CLINVAR:1042743 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 662dfa0e-d8c4-4553-b24e-3c5771b1ab1e CLINVAR:1042743 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6314b4bb-5e79-43bc-a768-925c5a5ae8a2 CLINVAR:1354221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a16c61c5-8cab-4d9f-baa6-6a1e1071ef29 CLINVAR:1354221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e00fdad-07ae-461c-acf2-6475a75b8dde CLINVAR:839054 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9ea39f6-98fb-4a3a-a96c-bafbdff11a7d CLINVAR:839054 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b1f732-3afa-45a7-b58f-faeaee8cf321 CLINVAR:532654 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7746192b-1132-464f-92ad-e8eadfc2ba25 CLINVAR:532654 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35a42ff1-d046-498a-8c16-b149a52cabe3 CLINVAR:532655 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41601ea0-709e-43ba-bede-4c8db8e6a51f CLINVAR:532655 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61f43689-8ecd-489d-b90c-a4f38628d9cf CLINVAR:1350529 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0dadb46-054e-4a84-b3df-20f247f23a48 CLINVAR:1350529 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db31462b-cca2-41ea-9eb6-6b652b0439b9 CLINVAR:581279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f003c45-9865-4912-bc27-e911ed6c24b8 CLINVAR:581279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b11d2f25-3e54-45d6-bcda-f3302f04f413 CLINVAR:1421576 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f3a2c24-ae17-4d55-beeb-8f7704b999be CLINVAR:1421576 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 995008ab-fafd-4187-ac12-ba9cd1acf1b7 CLINVAR:1415388 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1d53a46-22c6-447c-bd27-c06be86d54c7 CLINVAR:1415388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcdb40e6-5a38-4ea7-b658-71c5457ba8b8 CLINVAR:1010346 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2509ffd-4278-40cb-9b95-8069d3861688 CLINVAR:1010346 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46e4f37d-d284-454f-8a53-a16c53b0a421 CLINVAR:1000965 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac7fc72c-5969-4e3c-8334-f7a9989c4bf2 CLINVAR:1000965 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa3cadb-3910-470b-a112-1465976a2274 CLINVAR:1404038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce621e9b-fded-447b-87b1-0ec99ec95a4a CLINVAR:1404038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35dfec79-7608-4765-958a-e6bd7c303cba CLINVAR:1436178 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de904d77-7ae7-4295-973f-8b9898631468 CLINVAR:1436178 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99b7cab6-2ca8-4ae4-99f3-f3d175d9df98 CAID:CA383506026 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9ce4841-d7ae-4f1b-ab23-bb5c7d5dbc6b CAID:CA383506026 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09ff4267-383c-497d-ab46-312b03515e9c CLINVAR:586022 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1bd6cf9-1018-4277-924c-15add90924ed CLINVAR:586022 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16315981-2213-4724-b57b-daf31a72831e CLINVAR:560681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d7e6dc6-04b7-4138-8670-fd588e3056fa CLINVAR:560681 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 979de28d-a032-421f-ae90-a4404b9758d1 CLINVAR:635781 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e82289c0-cde6-4ee6-8a5d-355196c9a920 CLINVAR:635781 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40fc70ee-76ab-4810-8102-85ee89074b30 CLINVAR:635782 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 81607dd0-1f91-4d37-a6e6-6a6de1dd12f4 CLINVAR:635782 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd45d823-002c-4506-a767-e6f4b7f3425e CLINVAR:254648 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8eaf0c2b-8c3a-404d-858f-c097979d9c33 CLINVAR:254648 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a164c211-5b8b-460b-99ec-22a5574abe00 CLINVAR:427633 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe2a497e-9b14-4a18-800a-318a68762243 CLINVAR:427633 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf588da-8596-4ee4-837e-4435a9ed0aa2 CLINVAR:393444 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa4c440f-ee9f-4c53-96c9-4063724d7e8e CLINVAR:393444 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8d44ee9-2159-49c5-a09b-59b158b84dac CLINVAR:549555 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89193025-a043-4ec4-83e7-96d44e055514 CLINVAR:549555 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6fba6ce-8baf-4625-8a40-f7530e41ac64 CLINVAR:36360 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd2250ef-ef6f-4ed0-8d08-d00cbe577e02 CLINVAR:36360 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1946bdda-6bd3-4eec-81f0-325553d4ab24 CAID:CA2497028946 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b411d861-e20f-43e9-9780-d67b7295c9a3 CAID:CA2497028946 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39b77266-2d0e-4a33-84d5-569225719284 CLINVAR:1966519 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 736cac98-9b99-4242-9265-946d26434ec3 CLINVAR:1966519 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a14ad05b-9673-4685-9282-89bd394e71cb CLINVAR:2780381 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54a23537-8f41-4748-9ce0-243d122d73ef CLINVAR:2780381 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2420797b-cb7e-4b68-9e34-1cd9253cd33e CLINVAR:2088121 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c687e7d6-6fcf-4a48-9e69-f3f5d050d69f CLINVAR:2088121 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56b4c653-1fca-43f2-af3e-7e039611bd01 CLINVAR:3018366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63f950e4-cdc3-44a7-819c-ba9fdeee59d9 CLINVAR:3018366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8946193f-4a6c-4e09-b18b-d121f8886d0f CLINVAR:2678493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95e52b27-3447-4e11-a47c-4827d19f1bcd CLINVAR:2678493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0a0d025-1d44-4b78-a66e-0d25e6bdeb74 CLINVAR:2856448 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2905ca11-40d9-43a4-aac9-c440099ba4ea CLINVAR:2856448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7576384d-6b1a-44d9-b9fe-81fa9ed97600 CLINVAR:2678496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8771154-4d8c-404d-9cc0-7b0cd8458573 CLINVAR:2678496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 157aac86-10ca-4ae5-9824-0b261decdb88 CLINVAR:2713530 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d931f4a-9073-4ae0-b2ed-118da4c7dccd CLINVAR:2713530 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eb029cb-7b0d-48c1-ae1e-c9680a188bf1 CLINVAR:2697441 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 978501d8-7c31-4deb-ac16-96d03471169f CLINVAR:2697441 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f874ab79-27f4-4275-a555-1e4ba3c4c6d6 CLINVAR:1361711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e59c800b-26c7-4e90-865f-c8209e49de08 CLINVAR:1361711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 551bc9a5-fe76-413d-8fa2-c4236045e45f CLINVAR:1610586 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab09abf9-71e3-4f76-8ffc-6ae43f5764d5 CLINVAR:1610586 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0f0cfe1-900f-4728-8616-35238c68b9fb CLINVAR:569757 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de8058bd-5532-4f34-bb6e-adfa2819761d CLINVAR:569757 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1523f9b-99d2-42bc-bae3-455c2755749a CLINVAR:1428742 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d50f94f6-5b1e-46fc-8d9e-555ea13cf3d2 CLINVAR:1428742 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e6b6c1d-d246-4283-877e-c6d00ed62954 CLINVAR:864259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7e836d8-6737-42b8-bb67-26ce8925c6e7 CLINVAR:864259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ba2c33e-93a4-4034-b8cf-2eab9a66c072 CLINVAR:1488888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb9270c3-08e2-4d21-88e5-abac7ec0df33 CLINVAR:1488888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e67510a-ebef-46b7-9b68-edbb937e865b CLINVAR:1364020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e43f38fa-13bd-4d54-9605-276266d03a10 CLINVAR:1364020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e696fa-b9c4-43f5-9160-2cd590f05cf6 CLINVAR:409815 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4647a34-c02b-4d41-895f-4bc901b002ca CLINVAR:409815 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 179a38e5-8c03-4568-8237-c3857117aded CLINVAR:627343 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f50900be-b4ea-4d2f-968a-32ebf52e5cc4 CLINVAR:627343 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25871250-a443-447a-9d09-9bfe071db668 CLINVAR:2893433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 547ba471-b8f7-4ff1-9eb3-8c77cfc98456 CLINVAR:2893433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65ca322f-1142-4d37-90ff-7915c80cfa10 CLINVAR:2694690 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9ccd08d-b2c0-4e7c-bce1-a98562d01fe5 CLINVAR:2694690 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aee43d1-1c57-4ff0-8dee-8e27db6ac1d6 CLINVAR:2815871 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4f561f23-dded-4455-aaba-aa368088c6f7 CLINVAR:2815871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bc1a3b7-ae47-485e-b04c-bd32e2b9d897 CLINVAR:1356920 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a93066e4-62a2-4975-a8fa-6b636ff109d4 CLINVAR:1356920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90854d36-421f-4ac0-adcc-4eb49785e865 CLINVAR:2752186 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15016220-578c-4ad8-bb07-0cd114d1f5eb CLINVAR:2752186 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35652f64-e6f0-45fc-a699-d9f11a0d8274 CLINVAR:1057196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 421f01d1-abbf-4c25-9a69-f2701829d0eb CLINVAR:1057196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6dfbf92-808e-4b96-8974-f99d7c964f70 CLINVAR:1522045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e55d4100-f765-4e91-9847-88708f51ba62 CLINVAR:1522045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8dbbf17-e85b-4735-b4be-cdfceca0f84c CLINVAR:848735 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3903afa0-626e-4064-b8a3-fdce46e7da9f CLINVAR:848735 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0172c8a6-56d8-4f97-ae65-23dca9354a35 CLINVAR:2739759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8234bdf-c582-4c80-86d6-3fc679171a08 CLINVAR:2739759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25189b4c-63f8-4a12-b140-18fdc37730c1 CLINVAR:339803 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen baaa3815-e4d0-499b-9086-4391120b0d79 CLINVAR:339803 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c61a2181-c7f6-4568-8a41-cd30a8857021 CLINVAR:3023071 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3ff276c-74ba-41ff-9892-7ad7a05db385 CLINVAR:3023071 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6df5c723-0485-4ee5-a3fe-50c9e7ab38dd CLINVAR:2995353 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95dc20c9-2925-4dad-a3be-0ce43b30fe4f CLINVAR:2995353 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2044511f-c4a6-444f-9310-591ae8631f09 CLINVAR:1718293 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae7147cd-9694-44e0-82b8-96aaba815022 CLINVAR:1718293 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfe8cfb4-5538-4c29-a51b-44588860b93a CLINVAR:860793 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a74359f0-5324-4a3a-b92e-55f9dd56c889 CLINVAR:860793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9227c3e2-c9aa-4954-8c6e-75d8c36f5ae1 CLINVAR:1420902 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb6f28dc-24c3-468c-8692-9ac09d44533a CLINVAR:1420902 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f52a2b27-8978-4749-8d23-d73720e135ce CLINVAR:1046278 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a09b4696-fbe4-411e-aec7-4a56a9c80f47 CLINVAR:1046278 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15eaa690-e2a2-41ef-a57a-0aa53fbe55ff CLINVAR:860545 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad7da5b2-2a9c-441c-921f-4f47d92e7f6a CLINVAR:860545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5962f66-e609-4a4b-9a0a-e10c208fb440 CLINVAR:963047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c14e5b4-beba-4487-ad07-3116f135e36b CLINVAR:963047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 136d79fc-5562-45e1-a363-f93c8e94a6b7 CLINVAR:2879675 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1452f3c-32b9-4ee3-b1a7-5113f8f19fb1 CLINVAR:2879675 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65e2e92e-b40a-46e9-96de-87ac6696d5e2 CLINVAR:2741843 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ce081ba-3244-4734-925c-836c857a65ff CLINVAR:2741843 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eed6462d-13ad-454f-96c0-5530243dae1f CLINVAR:2749609 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c36a360-38fb-4707-96cc-1cad9f796074 CLINVAR:2749609 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4fcb16d-9614-421e-9711-6a1cad707777 CLINVAR:2864169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0aae2c6-40a5-4199-bf25-36691fe0e2dd CLINVAR:2864169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a1f860f-87c3-47dc-9cb3-52b02119b9e0 CLINVAR:10199 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0759eb4a-cbb7-4d06-b204-546a4bda4440 CLINVAR:10199 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1e8f102-8ed6-4a06-ac61-8934fcb5dcfd CAID:CA414892027 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c58a9f15-3dd8-4c28-be87-aa32d6978ee4 CAID:CA414892027 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59bd722c-9317-4500-ab4d-71e74193e4bc CLINVAR:209092 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63144d3c-aecb-4f1e-a7ed-0001ee30bd33 CLINVAR:209092 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f94232-d674-469a-9754-9a0025ad8798 CLINVAR:373121 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2af54887-78db-4b88-8af0-e1ad68227b12 CLINVAR:373121 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f584fc99-f337-4039-b2dd-e749ace3c571 CLINVAR:7280 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34befb8d-eae5-4ea4-a4c1-6b08411d2575 CLINVAR:7280 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce1edc11-1410-4175-a514-c7aa0e00acc2 CLINVAR:449326 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3777e4bb-7234-4473-9c19-666791ac5216 CLINVAR:449326 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65800119-4330-4bc0-98b7-62ecd64bd287 CLINVAR:931135 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65db36d3-5caa-4c38-847b-0e5977be5494 CLINVAR:931135 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48aec166-b740-4bcf-9805-7d46134ed6d4 CLINVAR:7281 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a1058431-4818-4686-9ea7-c4b2a02c5801 CLINVAR:7281 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd279c64-e616-4027-acdc-e477acfa612e CLINVAR:7285 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07962ffc-86cc-486c-a234-321f536263af CLINVAR:7285 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f25dbf1-1a44-443b-9e22-74543818d717 CLINVAR:7279 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b13b41b-f421-4c30-bd16-8731e8642fad CLINVAR:7279 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c45e8e9-ca14-4ffb-9723-5aa8fc4cf005 CLINVAR:158984 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66895c48-2a53-4f6a-a92f-ca0bdbacf7df CLINVAR:158984 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4cd3d62-6760-477a-be5e-b9a8be53491e CLINVAR:158987 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 930e495c-daf4-4586-91de-dce5caa154e0 CLINVAR:158987 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41b3a3cd-b4f6-46a5-8d66-5bc9c3756ac9 CLINVAR:11055 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b2bd4c32-8f57-4b33-9eb9-988a26b57490 CLINVAR:11055 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52b560f1-8f4c-40ea-b149-c71e54b5a425 CLINVAR:11060 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6536e86c-f24e-4870-bf2a-6d45d4e6675c CLINVAR:11060 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0fcfe56-a596-4b72-8492-3a47fe8862de CLINVAR:11057 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abfab4fa-b3f9-4c60-b95b-4cb9accfa7ca CLINVAR:11057 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7b5b969-8019-4785-8a99-12a9759b2449 CLINVAR:158926 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abec77f7-cb5e-49f3-b20e-0c0fdee275b3 CLINVAR:158926 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9630c2c-b8f6-4955-b088-37a4330ebef8 CLINVAR:167307 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd87f1d9-a8ca-4ab6-9962-3a7eb9640400 CLINVAR:167307 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16a272c8-b747-4499-91b4-1eb8d0a950e7 CLINVAR:930768 biolink:causes MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e38a5c89-7453-4b44-9d57-05b1b92a4802 CLINVAR:930768 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6855636-d926-40e6-991e-3d9715f30f83 CLINVAR:158953 biolink:associated_with_increased_likelihood_of MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a39e77fb-faec-4c15-ac8f-dffce1994d65 CLINVAR:158953 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94259d88-5336-4358-a10d-725dc1814e9f CLINVAR:552042 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e4d2581-005e-42fa-bc30-305315abdbd1 CLINVAR:552042 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0124a858-af30-467a-ab53-bce59b960b17 CLINVAR:553493 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cac736d8-1454-451a-9459-7a31e9572b2d CLINVAR:553493 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a4bb76a-e539-49b1-b417-8837c5d41f4d CLINVAR:496132 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b184561d-d90e-4f61-be78-7fd7c483fad1 CLINVAR:496132 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 590ddbdd-e08c-4d67-a465-64ba83680a83 CLINVAR:506284 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01bc2b5b-2b74-4b44-8f7d-1101553204b6 CLINVAR:506284 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b2db66e-8b97-439f-85fb-f50ebae7f9d0 CLINVAR:552018 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 805ea4ca-df42-49c1-b48c-7b4635ffa968 CLINVAR:552018 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 393f28a6-d877-4b5e-8030-2671e3cdbe61 CLINVAR:4027 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f429d14-3681-435a-b262-c9aff2bc5609 CLINVAR:4027 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d47506d1-ba0c-4490-aee3-7d9b2beabc97 CLINVAR:2710027 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 071f327e-f029-493a-ba74-384868a877e4 CLINVAR:2710027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 010f92ed-5533-4b06-8f80-054d295906e1 CLINVAR:1253809 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 740da489-3455-4275-9545-e4773af4aa21 CLINVAR:1253809 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6126c0ac-879c-4855-8815-e6f41ed79995 CLINVAR:642707 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37a186e1-07b5-4198-8f81-2bf49b8a7c92 CLINVAR:642707 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e137fbd-3229-43a4-8c10-ad1ed1673020 CLINVAR:12996 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba7476ec-feb8-41c2-a57c-21fc84b83793 CLINVAR:12996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a66368dc-baa1-4088-a917-9443a5e66d0f CLINVAR:438314 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a33c997f-83b9-4794-bdbe-cad3af5d4384 CLINVAR:438314 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96f3b684-de02-408c-b759-bf84276ba2bc CLINVAR:203590 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5ec8a09-fb26-42a4-9472-dda893656e5c CLINVAR:203590 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec9f2a10-2f38-49cc-aec9-f86d6c9d81ac CLINVAR:657040 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e907b35-52c1-4dbf-9098-4849fe776f54 CLINVAR:657040 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58eb7ae3-c3d5-4944-b9b9-6e04baf64b8f CLINVAR:440637 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8673e7c-77fd-4b7a-a806-dd6746c6c388 CLINVAR:440637 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e3f677e-f129-4a02-b370-8fd06b467813 CLINVAR:926526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10aa360e-6e8b-46e1-877e-7b345eea927c CLINVAR:926526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02b217fa-1b21-4b9f-b3c5-df8b03329af7 CLINVAR:251817 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 086fb883-94a1-4ecf-ba1a-f20a3b528546 CLINVAR:251817 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3ab84f9-203f-4f59-87a8-0039c5c54597 CLINVAR:251766 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af421b69-08f2-4696-bb3a-05f8e54a1541 CLINVAR:251766 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fa45f6e-8661-4e4f-9628-5ccd4ff4bdb9 CLINVAR:251765 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8534f39-63ab-4c46-9481-9c5b1fde22dd CLINVAR:251765 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecd9ef1f-c355-4ad1-8d3b-c446cf95b400 CLINVAR:936786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen affd9af7-256a-472c-94aa-dbeb11015c17 CLINVAR:936786 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a9fbd9d-59ed-4426-9c2a-fc281281455f CLINVAR:561681 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60242f4e-9f1c-46c5-a1eb-0cb59aca035d CLINVAR:561681 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23231811-dd37-4400-9b8c-5519f9d36b25 CLINVAR:560679 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08b99166-6544-48d7-95a6-51ae88cf143e CLINVAR:560679 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edd7accd-014f-4fd7-bf72-c0a056f3b23d CLINVAR:451330 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 22c98a4d-a132-4485-9db9-6f409c1b1a6e CLINVAR:451330 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 103749ac-e8d9-46a3-8952-7a204bd47307 CLINVAR:12982 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6e6f2ea-45c3-4a0e-9a01-694d2b97051f CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02e2a3a6-d11c-4410-bc5a-307a00393624 CLINVAR:582126 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af7ec964-6d41-47d9-a5e1-60d20469e778 CLINVAR:582126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75acbb08-3b63-4ce0-96ef-81ba7634020c CLINVAR:201153 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79e93d88-1f8e-462c-9b60-48b6e1ab741f CLINVAR:201153 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca4944e5-f575-4c35-a329-5515aca9a968 CLINVAR:1610571 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d1e16b8-af71-4023-afa3-5997f304407d CLINVAR:1610571 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d8e6656-ace8-407d-93b9-fde22249f5f9 CLINVAR:1576061 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 119f6a7c-f385-4779-99d4-7ca0733a3aad CLINVAR:1576061 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2574d7a-029f-482c-b9bd-6bec67c5e37d CLINVAR:2295171 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfdcf677-c91a-40d9-8f7c-794cd80c35dd CLINVAR:2295171 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f04dea4-a905-4a53-b46a-c290b940ea70 CLINVAR:18012 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14a1a85b-732c-47d0-ab8e-4ad4ca2913f8 CLINVAR:18012 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98324412-a238-46ab-b991-f50ab003fb0b CLINVAR:226353 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c93338f0-97ec-4bf8-aa0e-65f811bb6e7b CLINVAR:226353 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf9c814e-b492-46c3-9ae1-992b896a3b7b CLINVAR:328053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8493565b-4d4e-4e11-b49d-20da3b684ca6 CLINVAR:328053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7549b601-6d72-4b72-aa2d-419ed47bc762 CLINVAR:2057364 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df72b275-c532-4ca6-b4c3-bb60833822bb CLINVAR:2057364 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08aa4d9a-ee8e-4324-9981-b4752d4a04aa CLINVAR:251886 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c312de9-1612-45bd-8a06-ffbce6f93644 CLINVAR:251886 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30ab69b2-ae58-4d2d-872a-3adcb824071b CLINVAR:161285 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38cccde3-70a5-4b67-bbcc-9ecb2dd7432a CLINVAR:161285 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e51a856-e04b-4b3b-997d-ae3a5466573c CLINVAR:251864 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 819d1a6c-db5e-4ecb-9df3-dcbf20adce00 CLINVAR:251864 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c461ef7a-c382-458b-baca-452642296203 CLINVAR:251865 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32cdb4dc-271b-4465-a2ee-1842a329ebd2 CLINVAR:251865 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ca8d4b0-4118-4c1f-adcc-d8e98c698bae CLINVAR:251767 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26b4c2a7-4875-4664-afab-5998d94dc123 CLINVAR:251767 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7465fb52-d38b-4353-8ebe-7c3de286f998 CLINVAR:3694 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9db86bd-2191-4eee-a473-82ad25c28233 CLINVAR:3694 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d5ac0a1-2567-4d35-beb5-3f75c88c99a9 CLINVAR:440548 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34d2cc49-d3da-4f23-aa05-987b3cbf3698 CLINVAR:440548 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 677c39c1-fc49-4fb7-ae3a-b129c804a650 CLINVAR:252308 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 673041db-1fc0-435a-963f-6d5d9d14ad4e CLINVAR:252308 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd23bfc2-44e9-458d-9243-b867b8e6b5a8 CLINVAR:993226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2873ebd-52c0-4e86-81ec-33db5fb5bc04 CLINVAR:993226 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c4794b9-9db0-468d-b98b-334b5fb5143e CLINVAR:251900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9cc3c699-b609-4c9a-b7b4-8ed0ca61cf88 CLINVAR:251900 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32e3d10c-5811-4396-938d-c250db5d86f5 CLINVAR:3696 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25cd5155-271b-4619-aa29-ed33d134f81b CLINVAR:3696 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad86e80-d725-4c7d-b84d-df9d86d4b0d7 CLINVAR:251731 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f88df6a-c824-4e31-bcba-9f88fda00b01 CLINVAR:251731 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f6b0477-2127-4bc9-84ad-b20d707b7cad CLINVAR:251870 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff7dedf2-e182-4933-bc6b-f5b85775632f CLINVAR:251870 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3925a3fa-d193-475d-bbdb-0ec0e27855a7 CLINVAR:919898 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67351764-2d17-4315-bf48-a44a495e4cef CLINVAR:919898 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df8f416e-5902-4c51-a68a-8b3e6f7322c9 CLINVAR:251130 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65982b5d-860f-41a8-9d7d-4b7a32bc0d6f CLINVAR:251130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab0969bc-2aef-4362-bcf0-e06e6cb220ec CLINVAR:161278 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d777fd90-6f3b-4dcc-9de0-fd8ec91a4c1d CLINVAR:161278 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec803ddb-68a7-4bf2-8f25-b61d796e65ba CLINVAR:1509293 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b1b9a86-1a5b-4fe2-a89e-e0c12a52fb0e CLINVAR:1509293 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ae8eed1-be38-43a9-a97e-1e8736c87d06 CLINVAR:251949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 262a402c-2629-467f-a9e0-e31683a67ace CLINVAR:251949 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ab7c7c-452a-45b3-b609-e1c1b4caa1da CLINVAR:251147 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2806e0ac-0c7e-4793-9a9f-5afd4c732fed CLINVAR:251147 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc053f91-e007-43f8-a80f-336acbec0111 CLINVAR:1000222 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0db201f2-98bd-4e4d-a0ad-f3c17c2829ef CLINVAR:1000222 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4061146e-c947-476d-9ddb-be77be2a3b46 CLINVAR:220185 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c182dd0-e9b8-4e52-83b3-0bc08fe07269 CLINVAR:220185 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de36116e-d0f7-46c5-9e52-a43c266b83fd CLINVAR:233523 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a0bd8b1-852d-47a4-b158-fc2e173b84e9 CLINVAR:233523 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8323eeb0-1e7c-4bad-a51c-bd4799497ee4 CLINVAR:220203 biolink:genetically_associated_with MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 697e9ece-b0af-4e06-980f-ae645d315a34 CLINVAR:220203 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 637750ed-b4bf-4052-9531-7d882fb396bf CLINVAR:449776 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aed15266-5ed0-4d5f-a2a0-813f8672819f CLINVAR:449776 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7774826-a640-4743-b6f1-ae7763423d9a CLINVAR:619511 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51f223f4-5ed4-4ea8-8d9c-7f5451a88cad CLINVAR:619511 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87d601b1-e307-449b-b33a-ebeb1e1337ef CLINVAR:90178 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c6de6f4c-3297-4891-8044-fafd28c5ce67 CLINVAR:90178 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64205f2d-24e1-4643-81ac-e88308acdf15 CLINVAR:90011 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5b164b9-f5a5-4a32-beb7-344eddbee408 CLINVAR:90011 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 530171fc-1b3e-4cf3-9a2c-995766c9eff3 CLINVAR:561172 biolink:causes MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41a2d2b4-3964-4279-8995-331a9f543bd3 CLINVAR:561172 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a2cda57-58a4-496e-8660-6463701a27c2 CLINVAR:89816 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6597eee-b44a-4717-853d-287605a57097 CLINVAR:89816 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f04d49e-c9f7-4889-8bdd-673f93ae4602 CLINVAR:619558 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43cd0214-8d9a-4fc5-8ad8-b1c02e6953b0 CLINVAR:619558 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a0f7a11-e9f5-4887-8219-3c80628d9886 CLINVAR:1067956 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79e30112-f22d-4c24-bff3-e52a4b112047 CLINVAR:1067956 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f636291-2b24-4f21-8a83-35782f7ccdc3 CLINVAR:90503 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e046df44-d367-4257-a33a-2590ec0c0632 CLINVAR:90503 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11b06839-2fa2-478a-9904-99da6841373d CLINVAR:142708 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87412211-f0b8-4ff1-a4a9-a9b199a9bcf0 CLINVAR:142708 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d307973-4faa-4a52-8ae8-b5264fa80d3b CLINVAR:90880 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen feebd7f0-1103-4ffe-9ab2-17e68eccfc01 CLINVAR:90880 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acc42ee9-637a-4a26-a361-4b68b0f58340 CLINVAR:91246 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e13eef2-1e8e-486f-acb0-42e95979fa06 CLINVAR:91246 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71b90751-b44b-4163-bfd3-66ad477bab5d CLINVAR:246389 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 253d3b55-e5b1-47be-8e80-99561cfb58fb CLINVAR:246389 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95932f33-7ddb-4f00-93b2-a931ec91676a CLINVAR:89573 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6056d1c7-bf29-44d7-a0d1-093120cdb4fa CLINVAR:89573 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62bcbee7-9a87-4ac7-98cd-9545efc9dccd CLINVAR:455128 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a53e31d-11f5-43d8-990d-8fde89a0a51b CLINVAR:455128 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b6153a0-f24f-4642-953d-6adf5cf9479b CLINVAR:140774 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7d35c92-880f-498a-aed9-731e3ca0b50f CLINVAR:140774 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49a6fe31-71ec-4a4e-95a9-7f90847f5e8e CLINVAR:216294 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23a0b282-c23d-4a38-b191-23b9a47059de CLINVAR:216294 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c73746f-af7e-47fe-9fc9-e56354af71de CLINVAR:162508 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53ec972b-326a-4e1b-9c74-af59384c50c2 CLINVAR:162508 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f33cfa3b-4704-4802-b2c5-6eae5942cec5 CLINVAR:91361 biolink:genetically_associated_with MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 139d4899-696d-43da-9706-10dc89b155d8 CLINVAR:91361 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dfbf039-6730-41ac-9332-ab4bc88f22d3 CLINVAR:91313 biolink:genetically_associated_with MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2088bf2e-28df-47ca-984f-aa0ba88d782f CLINVAR:91313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4021ae51-8afe-4a33-b684-44b0f63faf9b CLINVAR:439243 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6282196a-a117-4c1a-b34b-2110e0850f49 CLINVAR:439243 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f7f4f3e-a0e9-421a-aadd-63ae7a7490a6 CLINVAR:480313 biolink:causes MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dad431f8-cef8-41f7-b65e-00e1fcaf0aa1 CLINVAR:480313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 131d2f06-d991-4cfe-aa88-858b06bf25c9 CLINVAR:2673296 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 256a84f8-9b67-4810-9cc3-d02291560cbe CLINVAR:2673296 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e06c45c-dfb0-40f4-81e5-c9253d8c28b7 CLINVAR:2673426 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2815a98-88b1-4b14-bfca-0a179a2d58aa CLINVAR:2673426 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06cab0fd-6dbb-4a87-80cf-de8407808e60 CLINVAR:811810 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2154fcf8-44f5-4274-9935-d7fc09594332 CLINVAR:811810 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb3ffbac-12d8-41aa-86e9-54f61b4e6862 CLINVAR:627180 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f67ab46f-8c41-4253-adfa-498850de140a CLINVAR:627180 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7b24bb6-7452-42ae-8f80-d834f6a5a82e CAID:CA2580612120 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c7029aa-590d-4a13-83c2-e2cb2d05b1a0 CAID:CA2580612120 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccaaef6d-4910-4371-95db-c1a7365aa949 CLINVAR:2084589 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0851961f-eea9-4710-928a-189876dd9964 CLINVAR:2084589 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa24b83a-6206-4837-87f2-49bd572ffee5 CLINVAR:972755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80c21639-47de-445e-8af2-01929c2f4da8 CLINVAR:972755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a08a0ba-3356-412d-9703-3465a0534344 CAID:CA386965420 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03fe1d66-f7e3-4855-9b23-5da39b98368d CAID:CA386965420 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f944efd-1742-429f-a06f-e7cedc984733 CAID:CA386965487 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82098b23-4514-4f69-9b6b-fd905c54828b CAID:CA386965487 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13b81401-89df-408c-9824-a65710d1b4d3 CAID:CA386965729 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc9e835a-4994-43cb-9e17-fcc07bf1d10c CAID:CA386965729 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f0feb21-23a5-4768-801d-fcf389c18e7f CAID:CA386966305 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 224ded1d-d42f-46f6-adb1-2fdd61a1d171 CAID:CA386966305 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32e0f94e-38d8-42df-adc9-177a7cef046a CAID:CA386966297 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8eb7bc23-341e-4421-9dc6-c62f1feb0e70 CAID:CA386966297 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e339a51-8c2c-4954-8ad8-117a221b5b8f CLINVAR:1304284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8eff95f-5eb6-40a4-9e1b-c36d1fb20bba CLINVAR:1304284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2734c2b-caa6-4ecb-8e12-8dc91f7c4553 CAID:CA399806749 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98ffd2d3-354b-4bdb-9cb1-b7a03a2db8bd CAID:CA399806749 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4a77f46-6c18-4627-a67b-5a2ede04e8a7 CLINVAR:3391415 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c4e739c-13e8-48f3-bd36-0fae358c3950 CLINVAR:3391415 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d33cfb4f-0246-4e23-83b4-71eeb9bae41c CAID:CA399805683 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b77347da-ccc3-44bb-aebb-2bb8495dc101 CAID:CA399805683 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 325741c7-bc56-4247-96ab-d8d1d640d61d CLINVAR:91386 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 787f1cab-fc8f-405d-9d3d-3b0a719ccced CLINVAR:91386 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ec4dd6-b169-47b9-b265-fae191bbb459 CLINVAR:872112 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33bb58a1-0117-4337-9c21-d6dac02f5bbd CLINVAR:872112 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f5f343e-d7b2-40ef-8a85-fa1f7723d791 CLINVAR:156623 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 472c9758-7f4b-4014-b41f-cc6971f3f5a1 CLINVAR:156623 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b747e20b-8a5d-4c25-a5a6-1f1cd6cb2fa7 CAID:CA2849481719 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c84fd459-eaac-40e6-abcb-5566e936f340 CAID:CA2849481719 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c27827ea-2306-4c26-adc5-b57d989cf0ab CAID:CA386966185 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2d48d88-f53f-447a-81a3-9b19db3c2882 CAID:CA386966185 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e815c1cd-80fb-4d73-bdf1-0958a91e2e48 CAID:CA386960147 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6285cba4-d797-49a3-b49b-1e0cd79ca39d CAID:CA386960147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69a3e72b-0ca6-4756-a3c6-3b5e5f40b327 CAID:CA409105364 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b151c1c6-d92c-435e-ace8-26414496f7b3 CAID:CA409105364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af2aab4a-6d7e-4d5c-a929-7d73f8942d52 CAID:CA409108770 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d2a0ec1-ef30-42d6-898f-1ad8cb3b29cc CAID:CA409108770 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21aaf133-d6c8-40da-ae2b-eb3bc6474dc9 CAID:CA409108445 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2104e154-24ee-4571-98c0-980571e37091 CAID:CA409108445 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abfa7c49-9db4-4bb2-b9a5-d860482306d5 CAID:CA386960129 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6680b65-bb31-41e8-84d7-7ae0c9622cd9 CAID:CA386960129 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 880a9928-235a-4e01-98f7-bc1eef4a4476 CAID:CA386960156 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6fcc786-9561-42d0-8879-5ff8538e4785 CAID:CA386960156 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 917c9db5-d6ae-4e8d-8b3a-1e5cc8e4cb64 CLINVAR:387822 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d56590fd-a578-43e2-a94d-b1718a0ac58c CLINVAR:387822 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2482ea7-871b-420f-ac24-df9297bbc842 CLINVAR:853965 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e98a2bd5-27b4-4059-a656-c84becc954ac CLINVAR:853965 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29d9eee5-6a0c-4d3a-a702-55c2ca0e0ca0 CLINVAR:891607 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67a404e7-c0e1-4a49-a1fb-e0527353bb26 CLINVAR:891607 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 892c073a-e0da-48c4-a3ce-4969a3920421 CLINVAR:205566 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3c86a2a-f274-481b-bfb8-416cd85b3994 CLINVAR:205566 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 698cc522-573e-4b04-93d3-20997cf04940 CLINVAR:328349 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c546922-5214-4143-a318-a654bb67d6ba CLINVAR:328349 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf5cbc31-1f51-467a-9f9b-275fb5523c6b CLINVAR:2145645 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2efb917c-12d0-4dcc-9242-6fd6d23092c5 CLINVAR:2145645 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 162f9256-bae0-42ec-b69f-d6fcbbe8bc77 CLINVAR:1552732 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2de6a66-7992-4a2a-b5b3-4e43cb5b752e CLINVAR:1552732 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c8510cf-e5f9-4d1c-a198-27f942959264 CLINVAR:439742 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93ea3a5d-9384-4a67-895b-1b0241ecfab7 CLINVAR:439742 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6d35e6e-2311-4ebf-9eaf-aac6c5629b73 CLINVAR:946936 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf65efe3-5e8b-4385-aae0-c47b1ddb1c76 CLINVAR:946936 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbd1b4b8-b3a7-4ff9-aba2-6477a8bb201f CLINVAR:143556 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6c356f3-5772-42cf-8afd-f907c60df3a8 CLINVAR:143556 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f26ae80-55e2-4e4c-88f7-fd781aa96ab8 CLINVAR:1684314 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e49aba3e-4224-45f9-89ef-b26d84561f08 CLINVAR:1684314 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c11a597-9b76-4a66-9923-e3cae4969bb1 CAID:CA913184734 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31716e28-5406-468f-8200-b5ef61dce73a CAID:CA913184734 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19681d8a-a229-419e-8f2c-2fe32e3032c7 CAID:CA658795239 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7b2ec3d-351d-404a-8f6f-c890994bea9c CAID:CA658795239 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d64733dc-f5ea-43dc-acde-1bc59c260e9f CLINVAR:554983 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d98f5d99-607c-4e49-9b31-e9265086062a CLINVAR:554983 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecc2113f-942b-4954-8ca6-dd3528e38580 CLINVAR:849313 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f0c7253-22f7-41af-8044-656bed583162 CLINVAR:849313 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a339265-2ae4-4bd3-b942-c500671db564 CLINVAR:3020821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94db346f-ec23-4e3a-9271-783462ac0d00 CLINVAR:3020821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e786aa2-6fbd-4d1e-a03c-9d309aca2936 CLINVAR:1401156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29de0688-e759-4398-9402-220b39bf2d86 CLINVAR:1401156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc4f019f-8516-4098-aa09-91dc99cc0dc2 CLINVAR:2753273 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce8529da-ec25-4773-9b2f-a57a92344891 CLINVAR:2753273 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00996231-2682-4f0c-be09-6d50031ce89d CLINVAR:2905469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d7ed52b-6969-49cd-94e0-d1d2f87cdb38 CLINVAR:2905469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4467fd9b-2197-4238-94a0-dcb68dc99058 CAID:CA410202475 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4754ceed-4803-4525-9d94-bef7a48e8edf CAID:CA410202475 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa96127-dab8-421c-bcd0-0d33c5c1dadc CLINVAR:944219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b43c92f-d9b8-43c4-bca3-3bd2c0832fa8 CLINVAR:944219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50e9c593-62a0-445a-9055-80041e6cc7cb CLINVAR:2732592 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a345c393-7361-429e-be3a-fd8f436f6b04 CLINVAR:2732592 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5e2a90d-e127-4f27-839a-4cf5935925bf CLINVAR:1945937 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cd2d4db-9c13-4c99-b4bc-23956341493a CLINVAR:1945937 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8d5fb4d-b650-4b9e-bb4a-eceea23ed1f9 CLINVAR:2757681 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 550897cc-983d-4b7e-998c-1a74c1b8a971 CLINVAR:2757681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72b6a24d-1589-48dd-b5b7-6aa9e5a0405b CLINVAR:2883235 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1d8f00d-4558-4ee0-bb69-3374a394fa0f CLINVAR:2883235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d77d629-9770-43b9-823c-8d45250c7c62 CLINVAR:2692676 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0204ed17-b4a7-45bb-8e4b-93816ae3e615 CLINVAR:2692676 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55e89a94-5d3e-45d9-9c9f-92fc988bcef7 CLINVAR:2834717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b33b9efa-a4d4-41a3-96a2-0750239f54a3 CLINVAR:2834717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a540df22-0c81-44cd-8160-86f1ecdbd5a5 CLINVAR:2730661 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47a5ede8-3464-4596-a32b-a0f9362a2bba CLINVAR:2730661 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a26db04-5257-43a7-ae33-51367597230c CLINVAR:2859737 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a38dfcb1-2d13-4887-9028-d4d144190404 CLINVAR:2859737 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce80dd19-84b4-434d-9a5b-abc0e9a13c76 CLINVAR:1898434 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb72d585-c2bb-46e2-8185-b2acc891ee8e CLINVAR:1898434 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f62e87fc-3dfb-4f44-920a-09abc07f4365 CLINVAR:1482816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 365854d2-0d86-4757-9f58-ba9a53f300a8 CLINVAR:1482816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7641f978-6f64-4b93-8c50-da5224eaced5 CLINVAR:1022622 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4fd135c-1c92-4745-b9c7-ef334cdccbc8 CLINVAR:1022622 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14bcd5f7-816a-48a5-b194-75edc56bbe45 CLINVAR:2678498 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36f9c9a5-cdd3-4f0f-8255-fd95f269e7e1 CLINVAR:2678498 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023e2156-a990-499f-bfb1-27bf393d28f7 CLINVAR:836080 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16e58dec-4da2-4d91-8c04-f745e6fa321c CLINVAR:836080 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4315a4c6-745e-44fb-93a5-68743787b923 CLINVAR:2663436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84992262-e0ed-44c5-a9ca-21c6d2d21d56 CLINVAR:2663436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16ababdf-048a-4832-9ce6-b56eedb61fdf CLINVAR:2990567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfccb214-69af-4591-8994-3efd8a19959b CLINVAR:2990567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15f6be7e-c6c0-4ef2-b099-59e9d73e51a0 CLINVAR:2959673 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16160f36-9770-48b7-902f-2d79cb4609d5 CLINVAR:2959673 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b3e7f2f-04c4-4de3-b27b-d44f1cdebc7e CLINVAR:2754122 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54e5d11b-ce83-4cbe-ab55-94337f5a2bf9 CLINVAR:2754122 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3e0a7b-d973-4dbc-b375-728a04d99d1a CLINVAR:339846 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 526f9d6e-01fc-454f-9ff1-07998d8d91eb CLINVAR:339846 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ceac2d5-0ed3-4b86-8706-fe6e5148e412 CLINVAR:2803152 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen af98ef99-1867-4302-a77b-ad3f93aaf3ed CLINVAR:2803152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75eb8a2d-038e-4aa0-b04e-e1174d283a6c CLINVAR:1989558 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06daaec1-1e9e-4acf-9c49-849f1cbdc182 CLINVAR:1989558 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05fa290e-1a49-47d5-80b8-c7f0100072f7 CLINVAR:2000813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18b0d35b-857e-4073-a4d6-b93045422d64 CLINVAR:2000813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56bda6bd-0b3c-43d7-b7ae-717bc8dcdffb CLINVAR:1978596 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c99b65b0-5c00-4b1d-9054-23942957ca61 CLINVAR:1978596 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d197641f-f337-4d1c-acb0-97a70cdccf37 CLINVAR:937462 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d91dedb-32bf-46cb-a8a3-120e5cd83315 CLINVAR:937462 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cda032ab-c142-4ded-b79c-1b130efca049 CLINVAR:1523457 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d56bd0e-da49-4d8e-bd55-bc600039d6ac CLINVAR:1523457 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a754c4-9bb9-4ee7-937b-c38aba882782 CLINVAR:942222 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57ef87b6-4c9f-44c1-8db5-00ddd8af0c82 CLINVAR:942222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0696a747-2d7a-48b6-b162-b5af97ca292d CLINVAR:1397177 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee1656ac-3e18-401b-84e2-5f4e3e941380 CLINVAR:1397177 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76f444b8-98f3-4c26-af78-1daf5477ed74 CLINVAR:863315 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f62051fa-16e4-475c-8db5-ff0078b32a72 CLINVAR:863315 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a1afdf1-9502-45da-b241-d025a9b28699 CLINVAR:845799 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 568b3864-a8d4-4b3a-8cad-a0be8148bfe6 CLINVAR:845799 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7447c8e-40ae-40dc-b102-5570d51ff34f CLINVAR:960548 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05bfe6e0-8668-4dc9-af87-07ff4195aebe CLINVAR:960548 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cab41137-4649-4bfb-88a6-8e84f0ada672 CLINVAR:339820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96d204ee-8583-41f9-95ab-7c0d77fd22d1 CLINVAR:339820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49746490-da3a-450d-99a5-a51b9739387e CLINVAR:3061340 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d77f10a-c620-43fc-9994-4ab7411fc5a1 CLINVAR:3061340 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7d2b4f0-c876-4c77-a7f7-cc50bbafe9f4 CLINVAR:1438523 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7dfe280b-11d3-4c4c-b937-da0eb641b024 CLINVAR:1438523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 539d4d7f-b073-4402-a8c8-4be91ff165c4 CLINVAR:1507190 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80ae4730-b8b8-46ee-9bbc-fa0330161eff CLINVAR:1507190 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8baf7ac-89d5-4ce9-a2ee-592e518e4227 CLINVAR:972242 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70776568-bcec-4ff4-b87a-8943d452cab0 CLINVAR:972242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48de8715-c01a-4be3-a522-668ea467ade3 CLINVAR:1509041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d56e716-95b1-4291-949e-f5c6f8d918c6 CLINVAR:1509041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bf7edcd-7cde-4c08-806f-d6c50d5cb816 CLINVAR:1010723 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a0cf15e8-88c7-4044-9d18-c7bfd3bec0e8 CLINVAR:1010723 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6ff0c59-0267-49af-af42-9251d25d8548 CLINVAR:1479428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc7454c2-4e21-4a36-a990-de165e4434dd CLINVAR:1479428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6994ef5-4186-4677-a7ae-27c757010f4b CLINVAR:2692670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e8ac890-b568-4ef0-99f0-1420ece2074e CLINVAR:2692670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cd83d56-7f97-45a6-9ead-7a6714f4cb4d CLINVAR:2695395 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afd61cd1-d82b-4223-8119-fb697d09138c CLINVAR:2695395 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bcb2c7f-a8c9-4929-a062-b616914c2c93 CAID:CA410202720 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1fbf4c0-85e2-45fa-bc0b-d27e35c099fa CAID:CA410202720 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 677ba683-c885-4252-b0a9-3975d3848f5d CLINVAR:3367215 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 745bacc4-dd6c-470f-b221-ad02db6287ac CLINVAR:3367215 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0cede60-3bf5-4067-b680-889027e30e41 CLINVAR:1422929 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cec9ff0d-fa98-4c3e-a399-670bf8b12219 CLINVAR:1422929 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c60dfaac-e6c4-4865-b3df-37a42e84b9c5 CLINVAR:1432362 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ab2870c-647f-4f61-8f34-a6176bafe672 CLINVAR:1432362 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f386387-255d-4eba-858b-efbd71fe9a9a CLINVAR:1481257 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cae169a-1d08-4229-b1e8-ebde0b96f1e2 CLINVAR:1481257 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25f9cc3d-596f-4d43-bbb1-1ed51d53d4da CLINVAR:1061802 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31e3616a-da02-499b-89ff-7d472c0b7a82 CLINVAR:1061802 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5540b123-e5e0-4633-ba07-f100bc34bd35 CLINVAR:1474271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9b1fadd-54bc-467b-b3e4-0f1866116853 CLINVAR:1474271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f041b938-d01e-4bc7-8d78-715d29d90a27 CLINVAR:1063502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0993e94-a4cf-404e-bb88-b4c533c6163e CLINVAR:1063502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c545bab-6e9a-4ff0-9010-ddb95c39e341 CLINVAR:1371567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen febcb80b-ceef-46d9-90f7-41cb2e776c3e CLINVAR:1371567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4fc6b96-085f-4aa0-aff3-5f504bb04087 CLINVAR:1417387 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51ce41e7-10f1-41e7-baa9-db0b16609235 CLINVAR:1417387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed37da1d-b7ad-4ce7-afc2-69c9faf4272e CLINVAR:934627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f69d675b-45f8-428f-93aa-9ccbc426bc14 CLINVAR:934627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7989590d-2c9e-4816-a3cc-fca9d54ed1d8 CLINVAR:1430436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e56699f5-7f96-4fc9-818c-d48dd1370175 CLINVAR:1430436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0254a46f-0527-4197-a52c-b718123401c6 CLINVAR:934336 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a82ba43-f4fb-428c-82f0-b3c5805ba9c3 CLINVAR:934336 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c34c146d-85be-4e4c-903b-97fb322ff5ff CLINVAR:858272 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91453a44-ef76-4766-8357-5522f17fb9e2 CLINVAR:858272 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 648e22d3-5701-4cb0-a6b1-e9ae194b0c6e CLINVAR:2752334 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61d17c4d-3f35-4d5f-9e4f-5a2db59cb73d CLINVAR:2752334 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79cad9a1-a6ef-4218-b211-a0d9e92be2ed CLINVAR:1394837 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be214eba-1e64-4784-b0d5-6c1e8ad93eef CLINVAR:1394837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9e61321-2bd5-4f59-af62-bf786d653b6d CAID:CA410203630 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen beca4286-11bf-4b5d-bb7d-156f91dc17fb CAID:CA410203630 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afe7913b-122f-4d55-aeae-4d7eac569e61 CLINVAR:339845 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66c71adb-425e-46cb-b6a8-26ea9a3a488a CLINVAR:339845 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f830efcc-b5f7-4def-bad0-9bc13d6ebd1b CLINVAR:1471561 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13eb78e6-290e-45e1-9a73-c7d954f53b38 CLINVAR:1471561 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b536d4ae-ec31-485e-a63e-fd63b956a919 CLINVAR:1437603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71300600-f9c4-48ff-af06-863ff3ab3315 CLINVAR:1437603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ede603c7-190a-4c58-89dd-03317718ddd4 CLINVAR:1701950 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89645d31-bfc2-4318-b40f-b8b09398fba3 CLINVAR:1701950 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e27d8e24-75ab-4a5d-9f96-68d761f3669c CLINVAR:1467839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abc5ff5a-e254-4c56-bde2-a261c20f956e CLINVAR:1467839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d71e0a9-340e-4eae-9ef3-6fa57cb8ec0f CLINVAR:1346637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen faa8dc19-77b6-46c1-8e9e-5a8554f55b45 CLINVAR:1346637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab65cc3f-ee6f-4617-857d-353e55dbd4fd CLINVAR:1369516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5709bd45-917a-42f4-a9bf-0244b51a1565 CLINVAR:1369516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf9fd8e2-84c8-4cd9-9dc5-5e75a7a63452 CLINVAR:1411636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9de7d72e-c395-44aa-ad12-b93a13a61d68 CLINVAR:1411636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1503ff5d-9dc3-46ae-a739-2c5610722096 CLINVAR:988848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e9caba7-8440-4001-b0ff-70797659ce29 CLINVAR:988848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b926662-9d94-4043-b5b8-0d0c839db36f CLINVAR:936839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd226506-b2b7-4e61-9449-700f5c6aea27 CLINVAR:936839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 553ef827-9d18-46d2-9d7b-ceb662be83eb CLINVAR:967968 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b240d38e-8388-4ca2-bb40-3f590aea7c99 CLINVAR:967968 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0baff8a-1e8d-4572-a6fd-e03d580ff965 CLINVAR:646645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 725e5586-1a96-42c1-a6ee-0899b842716c CLINVAR:646645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 646d5755-fc63-4862-97fe-72dd2e9891a9 CLINVAR:973890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 173495d8-25c7-47b3-8c87-ba9e731a88c4 CLINVAR:973890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe790086-b8f2-4dc8-9de5-9d7608f11181 CLINVAR:1718521 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20cd1fbd-2bee-41e6-b6de-e9b281763d7c CLINVAR:1718521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb6484e-125c-423b-9eaa-35eb4f269574 CLINVAR:1684419 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 016714b8-2485-4184-b180-4893af296234 CLINVAR:1684419 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5509c69e-125d-4907-9e1a-6671427feb8b CLINVAR:1684411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7e801d9-951d-48c6-8394-0b7a3758282d CLINVAR:1684411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e47f850-9b57-4ead-a489-e86b80687a32 CLINVAR:1516563 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 351f21e5-cdaf-40bf-b22d-9e9a960e1dc6 CLINVAR:1516563 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a45006c-cf82-4bc7-b422-33a66024ccca CLINVAR:1493649 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 517c0bee-dc62-442b-9d93-69684650b21c CLINVAR:1493649 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef45f2c4-4863-4a8e-8fcf-ac16e1ce1e55 CLINVAR:1491218 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9ae0aa2-faa5-4a78-a2f3-0439f8e24bbe CLINVAR:1491218 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d5786b3-628c-45af-b600-a6b327181dae CLINVAR:1489490 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7caa8fdc-5b63-4028-8e79-1d85a15a1d72 CLINVAR:1489490 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56750f82-da32-4dbb-a1f4-defb47d1b20e CLINVAR:845679 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c28f74fa-f4a1-4388-b3a1-b52efb870b06 CLINVAR:845679 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36d5d440-44bf-4ea8-ba76-4387862abb0a CLINVAR:841418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46202428-707d-4a65-8c27-2feda8139b9f CLINVAR:841418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e79301d-2643-4dfa-a726-a5046609ae0d CLINVAR:840832 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8af65508-3730-4afb-be39-197fee77c57b CLINVAR:840832 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da5a9354-71dd-44bd-ab95-7ebce2247d46 CLINVAR:664394 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6db0b353-caf1-49a4-ab5d-b757dc853722 CLINVAR:664394 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a874f1b-bd7b-4104-aa4f-6c7803f1e225 CLINVAR:648542 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba2368a8-6660-4bd6-a4f1-b6be30e816e0 CLINVAR:648542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f193be-d832-4320-b7e4-acebd83792f2 CLINVAR:1496920 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b47f945c-4725-4e03-aa7c-f645c5df6258 CLINVAR:1496920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1399dbaa-ffae-46c2-9d48-972bbd5cd38c CLINVAR:464011 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5148278-edc9-42b5-a374-a623368ba932 CLINVAR:464011 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70a32a17-6d03-4100-a840-fc77af5cf41f CLINVAR:2001601 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6abfb5d7-1130-4d44-b571-ca2755994209 CLINVAR:2001601 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fccd4e1d-54b4-4e72-ae37-4f91bf5417d7 CLINVAR:532668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42c678f1-6ad4-41f5-96b8-cb84bdf369bc CLINVAR:532668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023f55ca-c955-4b31-97eb-f7e693ecdf68 CLINVAR:836066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1a3391e-2892-4d9f-8a22-dde35c7ffa1c CLINVAR:836066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6ca3a5-ab76-4ec5-80e0-cff25ce91d3f CLINVAR:663181 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bf5c699-600d-476e-a452-afa8ad642c66 CLINVAR:663181 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab316032-6fc1-4196-a07c-a3c1b60a9ec2 CLINVAR:663009 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6a0d6e1-994e-4809-8c0b-3364d0de07ca CLINVAR:663009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9a203e1-56cf-419a-9214-896f292a94a5 CLINVAR:658039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a225d94-1b05-4607-9157-bef2f13a1249 CLINVAR:658039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4463a532-4cc9-4c74-b9f5-83767340ed45 CLINVAR:657868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e22166d6-3b1c-467e-9089-56ab1f8dca41 CLINVAR:657868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cd3f1ba-4924-45a4-8183-9b27de703a71 CLINVAR:656386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee30175c-81a4-423c-aef6-4b62f0250db7 CLINVAR:656386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f243b56-68fd-4b0e-9090-2027b4398426 CLINVAR:650331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2b820e6-50f3-4535-a73a-f9d03a87316a CLINVAR:650331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73ed52b8-6235-4cd8-a699-71def68c6dbb CLINVAR:650005 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41c6026c-7237-4400-975e-c4e72a88a8c6 CLINVAR:650005 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 423c8c89-e72b-4667-a48b-842757d811f5 CLINVAR:643861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1b1b7820-f5e7-4c75-8f74-77b28ae37ada CLINVAR:643861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bf471ed-bd37-4ce7-b89c-cf7ddb903b6c CLINVAR:641583 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9031821-6d7f-4634-b31d-2808184f281e CLINVAR:641583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcbda044-0c34-4798-9e46-72979584661e CLINVAR:639088 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ba94b08-e28c-4549-9792-bb7bf66cb600 CLINVAR:639088 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6cb567b-08cb-4ef1-a6e6-8058532cf924 CLINVAR:576717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbceac10-eb2b-45cc-b1ee-14d7ae660a8f CLINVAR:576717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 988f5fa8-71ee-482a-b587-28ddcfb99c97 CLINVAR:573788 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53df3289-26cf-47c4-bd36-e7e1277057ad CLINVAR:573788 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbe59a2f-c0da-4f9b-9ef0-2e93db5fa01f CLINVAR:573555 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e54859b-4fb9-4c61-b51d-3f03c4d74d72 CLINVAR:573555 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fb14706-ecd3-44a0-a522-210341a15857 CLINVAR:572890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9fdb2ec-97e4-4ff8-9dee-497bb0b11cef CLINVAR:572890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c19072-84e4-41af-9b28-08248b3e9130 CLINVAR:570149 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ed6d120a-6613-4f71-acc7-ae4c7a5a0830 CLINVAR:570149 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec10d32b-4273-4e26-944f-c09509554b0b CLINVAR:532660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02f574e7-be7b-4c4d-ae0c-8c9028bd8dd7 CLINVAR:532660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ced596fb-11a6-497c-b3ef-915c637c3b4e CLINVAR:532657 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab1ec67c-491c-4200-a22b-a37efcc8b092 CLINVAR:532657 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2ccf07e-0d5f-4bb5-891e-b00451791f5c CLINVAR:532656 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46da7ed6-bf45-483d-9c46-200736cb3737 CLINVAR:532656 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77ee458f-fff2-426f-a3d7-9a077c19272d CLINVAR:1678200 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a16db0c-c507-4f1e-ada2-92239a1fe444 CLINVAR:1678200 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fae01dce-9b96-48aa-b829-d575590d2eef CLINVAR:626913 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c84bb9b2-6fc0-4f4d-a592-ebed463df480 CLINVAR:626913 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e9c0aab-d54d-44fc-a992-382e1efdd0af CLINVAR:626911 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc5fe304-d1ea-427b-a365-11e9fd8f58db CLINVAR:626911 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ef363f5-6cec-40e2-a11a-c76c472506e9 CLINVAR:2146646 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a9ced49-d16f-4011-a30d-da9e6a47cd95 CLINVAR:2146646 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34917ef1-4b3b-4c62-bec4-f4ce7ea1fb4b CLINVAR:1959 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 70edfcaa-7d37-4fd4-be3e-ae2a1f2aba91 CLINVAR:1959 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35408f9c-d656-4eb8-b8b5-67fc0135c8eb CLINVAR:177778 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e909d9ae-94bf-4763-aeb1-6109d32da47e CLINVAR:177778 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80bad0ff-6722-4ab2-82cd-b1d75505e668 CLINVAR:1003866 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d5c782e-d14f-4ff7-b71e-e80e07c0aacb CLINVAR:1003866 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb6d2027-7719-4550-b8de-1192e689e841 CLINVAR:13903 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a19a4c3-5cea-45b4-8d5e-a9cc8d365aec CLINVAR:13903 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a84cb9a-4e4c-430e-bed8-4ff6ced6f3df CLINVAR:1070042 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 955132d9-ae93-4bf5-87dc-11e24c7fb877 CLINVAR:1070042 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1b6415d-9101-42d8-9801-c40ffbb50176 CLINVAR:424299 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d631caeb-4d27-4c9b-8ee7-35105632fc6e CLINVAR:424299 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 837597a6-4b0a-4dc7-9876-90adc99ea2fa CLINVAR:561350 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ff80407-efaf-4495-b111-2051e269adb2 CLINVAR:561350 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67eca69d-ec05-4321-90d4-db71f62cac3e CLINVAR:200177 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7be1c1f9-7d66-4fbb-8961-0aefcad06bbd CLINVAR:200177 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdbcaea9-135b-4b03-acab-6d807ddad81d CLINVAR:617874 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 777f1bdb-4bd4-465c-b35b-2c44434889f9 CLINVAR:617874 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b1e81b8-ac19-4d6b-8d58-36677d491bd6 CLINVAR:549173 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 65621825-5db6-4e82-a3ce-bbe5254ef390 CLINVAR:549173 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0609a413-7a09-4cfe-bf82-3c021e34ac8a CLINVAR:42339 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 852c0f35-def2-44c7-8ccb-08b4b605acc2 CLINVAR:42339 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d5b63b6-a248-4606-b496-5bfc07152671 CLINVAR:549019 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eee1ccc9-51aa-4630-b320-17ce592615ac CLINVAR:549019 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eadfbda3-e7b5-46f5-a486-a434415e4f78 CLINVAR:549180 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50dc72ef-1ba7-4ae8-be29-1777c09415dc CLINVAR:549180 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb660d5d-604a-4c1f-91d5-281a3624ce81 CLINVAR:495598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ab19118-583d-429f-a231-46ecc2c2f996 CLINVAR:495598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a44b6756-c06b-4281-a6c0-2b0717e3e32d CLINVAR:200022 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97198cad-fbb5-4a8f-bf59-831a0b5a4c36 CLINVAR:200022 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60b7c6a9-8449-483d-8f9f-02977202d87c CLINVAR:495558 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8ab80bd-8ce7-441d-8f16-6d17ca140db5 CLINVAR:495558 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b32de1d9-80fd-4a2d-807b-f875cf14b33e CLINVAR:36034 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 560c2de5-8a81-46f9-9964-51d65c9ef13d CLINVAR:36034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 870974e9-898a-4458-9395-b5f761ef1c91 CLINVAR:164809 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ea33e70-b151-4343-b162-1861bf34308a CLINVAR:164809 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 968c272a-bed7-4537-8abd-6afa3ce9cba1 CLINVAR:179025 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09332e0e-b393-4625-a830-0eaca4df6f2b CLINVAR:179025 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e36acd8a-7a09-4467-9644-2e461209b943 CLINVAR:209089 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27a0643b-91a9-4500-99e0-e68510c3f391 CLINVAR:209089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b0b104-311b-4f29-be6f-eb1727a40877 CLINVAR:2078744 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ebc1fc5b-b7c5-45dd-9772-69d784496b6e CLINVAR:2078744 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1185dcf1-09c5-463e-8aad-247586088653 CLINVAR:195024 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de9e8bba-61c1-4426-89ad-90743e6f4cbe CLINVAR:195024 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 465fc964-c6a2-4524-a0c8-4fca208d6cb9 CAID:CA414444915 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc8c06b7-e933-4b1b-a30c-a35db3e534dc CAID:CA414444915 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cde8bfd-57b2-48e8-83f1-3ccdbf422f98 CAID:CA414444922 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58315b11-e446-47d0-8ce8-2b79e4f855e9 CAID:CA414444922 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07dc0ef7-af68-4281-9d7b-46ffbd819d6b CLINVAR:2138734 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6467959a-ca4f-41bc-9070-0ce956879d06 CLINVAR:2138734 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76fe1984-6e47-4ef7-9c7b-9e2789217687 CLINVAR:10602 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2f6349cd-cb4e-469f-b6e1-9cefe7f406b7 CLINVAR:10602 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc0a793-0849-4f27-b35a-fb8961694ab9 CLINVAR:627177 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2b89d0d-3a83-432f-a12d-1e9a5dea0262 CLINVAR:627177 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63cdbc41-094b-4ace-9f28-8b9687e045d1 CAID:CA410780392 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ca2760b-5026-4998-98f5-9e73e2ebb9bb CAID:CA410780392 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e86f1f-d9e6-4f51-8dde-b72c28bcaf41 CLINVAR:705680 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fcc0fa0-d2ba-475b-babe-5af8fbf3d5f6 CLINVAR:705680 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aee0f791-4c15-4a9a-a59a-3dbd6c4d86f8 CLINVAR:973830 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50e950cb-7ba8-47b5-99b9-8109ca5bcf93 CLINVAR:973830 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ebbe87e-d21c-409d-85aa-59388560d7a8 CLINVAR:898727 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e352f939-27b9-47d9-b213-de7c5f18b0d0 CLINVAR:898727 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfbfd585-c27e-4dbd-a798-bb73c9cbd446 CLINVAR:523986 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1836c01-177b-44d9-bd5d-a9625b23dd86 CLINVAR:523986 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce1ffb05-e24b-4aff-b113-02e595a4304f CLINVAR:2634012 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b116ae41-c181-494f-8d8b-ee0443358b39 CLINVAR:2634012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59337738-b218-4fd1-a11f-d6c0ee49dadc CLINVAR:2757091 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6df3c1ba-47b6-4279-83b4-cf2990f8ab8c CLINVAR:2757091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0e895ef-2058-4c32-9910-634f43671f45 CLINVAR:2839740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 871e5f29-6edc-46f5-9a57-af61a3fdc995 CLINVAR:2839740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9008df0-d4f7-4d05-846f-a9dbae20450b CLINVAR:2750881 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1308a01-c673-47d2-bc73-d3556fee83ca CLINVAR:2750881 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 830a4c4e-437d-4d57-bb4c-f129a1e8278c CLINVAR:2112037 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 042830e0-0255-4622-8ded-5c6a0f46daba CLINVAR:2112037 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16567466-15b8-4ffc-876b-9607e0453f12 CLINVAR:522800 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cef801eb-6b6e-4b43-bf03-7110cd185e9b CLINVAR:522800 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 471afec2-39c3-4d02-ab58-a6dc7d8bd181 CLINVAR:522164 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6029bfb9-f5f2-4f12-a038-e3d02e3a40ac CLINVAR:522164 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58d94679-dfc8-4792-ac06-1d069503b21f CLINVAR:561716 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 91ebf933-a5e0-476e-ac2e-f737a8dfec59 CLINVAR:561716 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c98a170-66ec-438e-85b8-963470db0755 CLINVAR:1066305 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e8a4acc-413e-4ca1-8ee9-09a4dca96d05 CLINVAR:1066305 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdfc735a-bad9-4da9-8acb-42f328bdf617 CLINVAR:599033 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8344fb24-1a4c-44db-968e-ddff30b49d36 CLINVAR:599033 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e380af35-7220-406d-85cc-76bc6881de1b CLINVAR:561683 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f04ba913-1498-475a-9b12-9656a1658b36 CLINVAR:561683 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de938153-72b6-4ea3-9d1c-9647436a0e4e CLINVAR:522799 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2af188d-8083-46fb-8554-84ec41b57f36 CLINVAR:522799 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44fb8b0f-5cb5-47d2-9bae-a1e730e39556 CLINVAR:451722 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6c9429d-820b-40d6-84f4-787e6327855f CLINVAR:451722 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5018c0ee-95ad-4463-bfe0-e1b9ad5e5d8d CLINVAR:3383924 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17246909-724c-4167-9bc3-7da0be12ffc2 CLINVAR:3383924 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb29d05c-06d7-4fcf-9895-b439826e4a8f CAID:CA367400483 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a173f06d-a952-4757-ac2b-e811113ddd5d CAID:CA367400483 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a9d764d-a2aa-4231-b492-15863fcde047 CAID:CA367400486 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e77c5796-bce5-4e32-b8d6-03297df738fc CAID:CA367400486 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d84f739b-4b5e-440e-b5bd-ea2baa82d153 CLINVAR:658067 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 852b0d65-3835-4ab8-a016-535d40a51833 CLINVAR:658067 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4171ac8a-6744-467a-9759-022c1a9c5fc5 CLINVAR:374331 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b46f2681-1ae6-4aae-8024-c3afefeeccd4 CLINVAR:374331 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35ee1a7c-614b-44f3-a2e6-c2543f23b2c1 CLINVAR:372977 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7836a1b9-6af8-4255-ab3f-718fc11e88b7 CLINVAR:372977 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 694427fe-79cd-46ad-8ff6-0e79e6aaf4a7 CLINVAR:12893 biolink:causes MONDO:0000700 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f7e44de-f8e3-490f-8ae5-10fe717c3e26 CLINVAR:12893 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9798be3-c41f-491b-9bbd-dd0cc1510bef CLINVAR:393000 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e39f6a2a-7fd2-4602-952c-794b551a2a24 CLINVAR:393000 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5adde427-bb71-45ba-b509-ee9d4c7c0bfd CLINVAR:130208 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f533401-12f6-4d04-942d-ddf770ebd2bf CLINVAR:130208 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aa84017-27b1-4b3e-9bc9-71b64f5bd0df CAID:CA2695216038 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e97b65fc-a51e-4d71-b47c-82d181da101a CAID:CA2695216038 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eec66eca-662c-45ae-ac84-ae151644c721 CAID:CA383520062 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1b9c2a02-effd-42e3-9fa8-a295652a644a CAID:CA383520062 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ae9d8a8-41ff-438d-b695-d71c725d68db CLINVAR:425863 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe68f2fc-e89c-42f4-8435-a73b404354f3 CLINVAR:425863 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 382a8cd8-ff18-4d6d-8d4a-9f1f4d28a144 CLINVAR:425885 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 760a117e-ebcc-4793-8ef0-881aac73899e CLINVAR:425885 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99073c6e-31c3-489a-a432-bd3342a4d5f6 CLINVAR:425886 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18e2f077-5768-4a20-81e8-47db889a271f CLINVAR:425886 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 981a2e45-3601-42c3-a964-5f37725b94a4 CLINVAR:425887 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71f64368-9f56-4290-8f6e-c7b93ef51206 CLINVAR:425887 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7de75ba-f99c-4a17-93ec-036a00fe4d1e CLINVAR:425884 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52a20ad8-82d5-44af-9c38-8e0b3b42d7c4 CLINVAR:425884 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 805c427e-5805-4c13-b578-937f2d31d5ee CLINVAR:425883 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06929669-b0c6-4f35-b646-e3be5b1b03be CLINVAR:425883 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 320e147a-de91-4242-90c1-4408456374d8 CLINVAR:425888 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd8ccb31-3f59-400e-ad29-c29bd028aba4 CLINVAR:425888 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0073387d-932c-4713-b8a9-4d29d8530093 CLINVAR:425889 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 497dc6ec-aebf-46fd-b583-b7934a8e47e2 CLINVAR:425889 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6ad0508-2fd3-4c8c-be2f-61ac5db29fab CLINVAR:323556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee653d93-8a7b-4175-a4c2-64eb16ffa430 CLINVAR:323556 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ef965e6-ea1c-4e48-9c30-a38222afeaef CLINVAR:888902 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44c976af-2d01-42f5-847d-ed20b6043de8 CLINVAR:888902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 552d4305-b3db-4dad-a156-67411e070d21 CLINVAR:1698808 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 601a4343-c01a-4d6a-bebc-8311368af1b0 CLINVAR:1698808 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e92692-fe69-4d49-bbda-8ea2fd3d5b81 CLINVAR:477043 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0bf89c2-c106-4527-9cd0-ebbd9c737d4b CLINVAR:477043 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecabb494-56e2-412e-9360-408954123670 CLINVAR:254293 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 694c7182-d168-4f84-828e-2c3a606b648b CLINVAR:254293 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aa55388-e0c7-420e-9fc2-96c1c8dda5ea CLINVAR:664199 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f55d6575-669e-4f68-a64a-1a78fe0ed812 CLINVAR:664199 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03ed4e98-9fca-4921-8ae9-a1fe84265d01 CLINVAR:339882 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c18795b2-d688-4f43-bb74-63fc70dad44b CLINVAR:339882 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06632489-5c57-4feb-9b96-4cca7545d289 CLINVAR:339813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88eeb0d9-de09-41d0-9dc6-2344fe8bd970 CLINVAR:339813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f66339b9-e3b1-4748-95a1-00ca7afc1ac6 CLINVAR:897695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d628e5e-9583-4ef2-a81d-f2072552818d CLINVAR:897695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96a6331b-d2d8-43dc-9ca1-298b605f18b7 CLINVAR:1040892 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 256276e5-a1a7-4668-b91b-7e5602aaea6c CLINVAR:1040892 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5144617-67f9-4df4-8a8a-2f4893ee4df9 CLINVAR:2728565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2022da14-1086-426e-9c53-e2e7da685400 CLINVAR:2728565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53eb99ef-8716-4346-9d47-aaafdb9ef853 CLINVAR:964321 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7880d505-2b51-4ffd-b2a2-3856730f4d74 CLINVAR:964321 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc907e9a-d94f-47b2-bc21-24f7494d090d CLINVAR:2419700 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d1981aa-3afa-457a-bae0-a0d8d7e9f5a0 CLINVAR:2419700 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba354e29-d553-4e27-a5d6-f74d4cd55480 CLINVAR:857804 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3827814d-d81a-4339-92e3-6d35313a8b98 CLINVAR:857804 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32cf1040-8711-4a9c-a9f6-7dc73b7c55f0 CLINVAR:970259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe4af907-4e4c-4eaf-8db2-5f161f31a137 CLINVAR:970259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e49bd928-9fa2-4341-b0e7-25e21d1ebb84 CLINVAR:988867 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ffb3b16-3b6b-4334-bed1-ead0bea3f792 CLINVAR:988867 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81245072-5949-4336-99d2-99eb1cb43250 CLINVAR:840865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63695ca5-0502-48c6-ad08-c8a451247ef7 CLINVAR:840865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b202ae37-f186-4620-b138-bd7e32bd1b16 CLINVAR:409817 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61049927-e5e8-4770-a609-5386116d9468 CLINVAR:409817 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c02df4d0-525a-436c-83d0-dacba19c73ae CLINVAR:2728942 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ba93aed7-c336-4efe-b919-3bdb5e6cf95d CLINVAR:2728942 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20055f53-3e72-4569-a5b7-3f4f80ffec20 CLINVAR:2678491 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6963ba46-9be5-49bf-846a-80448dc87ba7 CLINVAR:2678491 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe5aa54a-eec3-44de-ae3c-5400289f42dc CLINVAR:856836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd2261c9-5616-4d0e-8504-3637d08b3bac CLINVAR:856836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1043cef-8d44-49c8-b8cb-fc04024f60cb CLINVAR:1037898 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5004d87a-bdec-4606-a364-dfdc77feb362 CLINVAR:1037898 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d4139ad-17ac-4484-b6a5-865bbbadc08d CLINVAR:1447557 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 644117a5-e6d8-4380-a3b0-d478e41f2668 CLINVAR:1447557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d1f2e52-44c6-4315-b0f2-82192a5f5129 CLINVAR:2154408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2ebfae2-2433-4b5c-941d-6c6155b171ad CLINVAR:2154408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8668dc50-4ef9-4735-bc51-b4753e330a31 CLINVAR:463998 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a58d8593-6f2a-4dd7-9137-2ec04ddb50ef CLINVAR:463998 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c125666-55d8-41a1-8be9-e0a4fdc4041c CLINVAR:409821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0552330c-f5cc-4871-a1ed-d53086dabd78 CLINVAR:409821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03e7409c-23fa-4dcf-86f5-f1b62ba70954 CLINVAR:2045031 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf4d99e9-7451-4b33-8f2c-838a41c1e43e CLINVAR:2045031 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d4ae774-9cbe-4ab4-96e3-fca302a0449a CLINVAR:409807 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16ae951a-aa54-4e96-a436-c0d52acf839c CLINVAR:409807 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb4da6f8-75ac-4a99-80d3-793b6d722598 CLINVAR:1346335 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abf5c3a7-0c0b-4b48-a356-344c8378f952 CLINVAR:1346335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c4d38df-c8de-456b-ad24-278db21e2e11 CLINVAR:1410456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1eda8a8e-fae6-4203-8dbf-93c90d4f95a0 CLINVAR:1410456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c56ba6-9136-4023-b574-cca87fd72c2b CLINVAR:2116456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fa9dbe0-7580-4287-9994-aa15a1749f78 CLINVAR:2116456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e0aa7f1-d505-46d4-b7d7-3bc5a20ab432 CLINVAR:2003023 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcba7cfa-28be-4c8a-b7fc-f422eea3d200 CLINVAR:2003023 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8882e91-c1bf-4b70-9c23-66e6d7b716df CLINVAR:339880 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de058fa2-3af2-482c-8610-8cc2c6142144 CLINVAR:339880 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6444025-eedf-457d-9f8a-3d119b726ae5 CLINVAR:895826 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c9ed5bf-6914-4e0a-8add-a3b30cf818e4 CLINVAR:895826 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4da1ab4-4319-4c33-a9ea-116c09a40128 CLINVAR:339847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 93624f81-b232-4dcb-8d79-1683ac9129d7 CLINVAR:339847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50200881-6b59-455c-8c7c-174f250a6585 CLINVAR:898860 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00d5faf5-d648-456c-a641-2cc94fc6e056 CLINVAR:898860 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c03079b-9e0c-4971-9129-59396c57105f CLINVAR:339834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e98ff0a0-cf0f-490e-99b3-f0ab2e04b480 CLINVAR:339834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8725e1d4-d60a-4cb0-add7-edcf29623c93 CLINVAR:896042 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dc976c2-7fd4-40d7-8b0d-e6c9cdef6fbd CLINVAR:896042 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62de415b-b1b5-4793-bdff-e6dc2b269975 CLINVAR:339814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f47877c5-31a8-4f87-9613-3cf6497fd292 CLINVAR:339814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 218176ab-2ce7-4ec3-85b5-a4858ee5057d CLINVAR:897697 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4a5511b-d54b-46f8-a6b2-b6421daf7069 CLINVAR:897697 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fff80116-0d83-4906-a46d-3f8ee6fffa34 CLINVAR:897570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c442237-607e-4f50-ac38-02882f5561c0 CLINVAR:897570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79131f98-ceb7-4bab-b748-57fe25d42cf4 CLINVAR:897093 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f900952a-1158-4d2e-9548-684306c080e2 CLINVAR:897093 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6210ba8-2de7-4dfe-aef5-45f5802bb10a CLINVAR:339861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32a92e57-19bb-452e-82de-104450609d1a CLINVAR:339861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 587caa81-0e5b-4d1b-b368-92775463f77c CLINVAR:965008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 151d6785-f5b4-4f8c-9ee5-c1c731453187 CLINVAR:965008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3537b1e9-30ac-454d-bbcc-66f03555ca2a CLINVAR:1022964 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41d0b379-7db8-4ea8-a59b-eef594588d5b CLINVAR:1022964 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8a90275-27c1-46e2-b5e9-2c94dffdb82f CLINVAR:934759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdc81446-3543-4f61-ab7c-81f4a7690d99 CLINVAR:934759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 176dc36b-b9e5-432f-a5ee-044a21acdcf7 CLINVAR:417952 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8ef2584-a412-4825-a61f-796eb935523c CLINVAR:417952 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deaddb2c-05d8-493a-9a9f-fbe8e7873378 CLINVAR:316212 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72d67151-6e22-49de-8f4e-2a15052fb1ef CLINVAR:316212 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bae550d2-55d7-451f-851d-ebcadd3f19f6 CLINVAR:449185 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db400a7f-7451-4f14-98fc-a4b814ee5798 CLINVAR:449185 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7412dcac-8291-4696-811e-e8152357effa CLINVAR:588254 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9846651f-9361-46fe-921d-abe6b6abf82a CLINVAR:588254 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea71cabd-3d4d-407e-a47a-8c582641b706 CLINVAR:2181706 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e9feaba-1f7a-4900-86fb-3288ec52ec81 CLINVAR:2181706 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6af187ae-d49b-45cc-be89-ab2acdeb87d3 CLINVAR:1562414 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f16f0321-3549-4c63-8c62-2356c394671c CLINVAR:1562414 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e08cd357-4078-47e3-ab66-18d20f586478 CLINVAR:511341 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd7f698f-2ad8-4380-91a9-93306472d384 CLINVAR:511341 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01c6d37b-95df-4877-9ef3-82f08394d382 CLINVAR:917570 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2d327c10-7f35-4116-b139-c4b6b2c3798c CLINVAR:917570 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9965e606-7643-4363-8cee-06f23a5ad5ba CLINVAR:1676188 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9fa11a8-753c-423c-b85f-ff7ad460670c CLINVAR:1676188 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c42423a-3707-4d55-8efe-56087d870734 CLINVAR:9679 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1e4ef81-2391-4802-9262-fb98c63e5fd4 CLINVAR:9679 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73cb7f15-a260-4f51-8c3d-70c678ab4f66 CLINVAR:9681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5e62bdf2-0329-4732-b69a-cee674dc2095 CLINVAR:9681 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95bcd97f-6aeb-4dec-aaf7-a47dcdffc0ae CLINVAR:382591 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2968148d-0b82-43da-b046-759eddb16f92 CLINVAR:382591 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f901a39-9dc1-4883-a0d1-4298cdb3e79f CLINVAR:9662 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7864b9c-bae9-4378-a686-c708938d340c CLINVAR:9662 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 118fea3b-3505-4c13-ae74-c6b10456bf60 CLINVAR:995600 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ea4e958-cfea-4c31-87c1-bc58b095153d CLINVAR:995600 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 249014e8-da15-448f-95b6-06a763d6b5db CAID:CA16020765 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06518a9d-91ec-40da-aa7f-0258584b26f5 CAID:CA16020765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 068ea774-86fe-4d0c-bd1b-deaa12c6cb01 CLINVAR:102683 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bb1502f-48ea-4740-954e-c2d47717827a CLINVAR:102683 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cf8ddd8-5d71-4660-b0e6-aa12dffac5a7 CLINVAR:102682 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b81a861-c3c7-43e4-b784-fe855cfeb7bf CLINVAR:102682 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf599ef-4600-4cea-a440-ccb8d8f3b80b CLINVAR:102636 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86971735-d46e-4db3-90e0-3f99b5227f62 CLINVAR:102636 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02be0ffb-33a4-4bd2-af01-c7705233908e CLINVAR:102637 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b46134e0-9e18-4362-a658-02d8d8615831 CLINVAR:102637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42bc5319-aeb9-429b-b665-0a6ec49a406b CAID:CA16020793 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd0eaf33-f7c8-4eeb-b255-805e50f0de0c CAID:CA16020793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8d35b69-2b84-4e2a-ace3-d4ac5a6c95fe CAID:CA386296891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85295593-cf5d-4548-910d-3358582fd986 CAID:CA386296891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ca84f9-f8a4-4228-aab9-f0ce45331859 CLINVAR:102695 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c358b995-dd49-4000-a75f-3d83ee1f9b56 CLINVAR:102695 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08011bbe-4de5-4c9f-a30c-7417dcea4816 CLINVAR:134528 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03057019-c01c-4e87-8854-3c1ca3fc5ce6 CLINVAR:134528 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 969216a6-3535-477b-8c1c-7043dfa5fff1 CLINVAR:9658 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29a3a961-3bb9-4dd1-8e27-5cf68414c833 CLINVAR:9658 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14f15dd3-0eef-4c85-8819-916a34d7c279 CLINVAR:9665 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f57164a1-d66a-4f17-94d7-73c9073652b0 CLINVAR:9665 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c019ba21-10e4-45c2-b0f0-9e53680fede2 CLINVAR:430687 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ee94851-d5f9-4559-9976-d419f98d4045 CLINVAR:430687 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72d9f0d2-10a6-4ef7-9cc0-c345ce530074 CLINVAR:9599 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5352b877-61e7-4481-b273-c5038e46c942 CLINVAR:9587 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9444e1bb-b897-4511-b9db-021b7ce65fba CLINVAR:9587 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ab1ef21-2883-495a-8173-b954e0391f89 CLINVAR:9595 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23dddfd5-7b22-4423-b777-4a8d9c7e9e48 CLINVAR:9595 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16d82e1f-6aa5-4180-aac7-47c5c5867ba4 CLINVAR:689861 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90a69adc-82c8-4583-a8e7-7ef514acca80 CLINVAR:689861 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8eb006c-a716-4046-bb38-5d172d0f1b3f CLINVAR:689895 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e496120-18a5-4346-9904-e14269f1050a CLINVAR:689895 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 618ecffc-c8f5-4fcf-9f00-f5538050945f CLINVAR:692361 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f2c37bb-d9c8-4e98-b7ea-a9d234c438a9 CLINVAR:692361 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd6f9c74-70a4-4cdf-b284-0e124871b770 CLINVAR:812543 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc8d1408-089f-4da5-8498-ac11d3817d15 CLINVAR:812543 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e67b879-8b05-467a-ac84-c15cd949c36c CLINVAR:9216 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 143939a4-c790-4e3f-bb78-0e0d62c558d9 CLINVAR:9216 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b55ca81-bd04-4d8e-940a-a6fec6d6e7d8 CLINVAR:2580875 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b92d225-ae0f-4426-a903-d65db8ce02bf CLINVAR:2580875 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 303a7d48-6507-4d53-a958-32eaa1fd3efb CLINVAR:558316 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80e59187-de5b-4d88-9681-5d7d32e6bcca CLINVAR:558316 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33982599-2c52-4015-a231-b5fb735aaebc CLINVAR:444626 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 848dfc62-a708-47ab-94ad-60afa6c44c7b CLINVAR:444626 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd100ba2-b9bc-45e2-b026-56ba66eb3c95 CLINVAR:92644 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba1dbf9b-e70e-480e-8b0b-b72bef6d069e CLINVAR:92644 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2663b27d-c63c-446a-bbcb-3938aaf84b50 CAID:CA2573332224 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d65405a4-2a18-4f2f-9383-00e815def645 CAID:CA2573332224 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e677fea-e143-42cb-9158-9f971ac66b55 CLINVAR:2704858 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a59ee297-22dc-4a6e-9812-a85537ebf405 CLINVAR:2704858 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 268a71da-a311-4045-b862-38be241618e4 CLINVAR:1323099 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d036f123-117d-4b9a-8e8d-869d66cd84ae CLINVAR:1323099 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 529d6d2e-953f-4167-a0bc-c565cf87f8b2 CLINVAR:92636 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 01460988-b3cb-4b34-9d61-f7429e5d9a55 CLINVAR:92636 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd091ef3-ec2f-435c-9ef1-9dafc23bede6 CLINVAR:1323098 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4226293-0709-4dc4-b3da-bc1dad811b11 CLINVAR:1323098 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01db6d8f-5d42-4028-bb24-b5acf183521e CLINVAR:638074 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eaad8710-6ae9-4532-ab37-fb50ff9ae4d7 CLINVAR:638074 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbc478ca-f2e3-415f-ae82-8e44ab47a15c CLINVAR:828094 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da69978c-5f5e-4ebc-98dd-1b0a64cd4756 CLINVAR:828094 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 254dea53-0a27-4ce8-a82a-6ede7fba499f CLINVAR:193061 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 527bd17f-f894-4505-8ab7-c3eca1131bc1 CLINVAR:193061 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 541bacb2-e3b7-42b8-9a93-60954f6a6dab CLINVAR:222994 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa893613-d466-41cb-90f8-157642440fe5 CLINVAR:222994 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038a8986-ef00-4588-9558-462f8960f1a7 CLINVAR:92643 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b40a086f-d575-4cb9-a01a-6ebb62642974 CLINVAR:92643 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f908063-da6a-4b34-88e0-9500fc51f3a7 CLINVAR:557616 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 770e6121-b039-4594-b921-dc748fd857e6 CLINVAR:557616 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b3e496a-b4ab-462d-998c-766e0317a231 CLINVAR:1406350 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3543764-87e4-45b1-a4d7-fe09605e5569 CLINVAR:1406350 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b1bfc65-54de-4437-8b7e-273fa4cc2563 CLINVAR:1968567 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41cfed42-565b-460f-b8d0-ce25e2ab5fbd CLINVAR:1968567 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa986645-d176-4148-acf2-a2c67e9a87fb CLINVAR:905912 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ba7d798-88fd-4304-a845-e97773f910bb CLINVAR:905912 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcbfbad8-4464-4731-90e1-41525d3539df CLINVAR:1309246 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 602f6aa9-c3d5-40ae-8a56-dab0a4cf0551 CLINVAR:1309246 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8308f750-c44b-4feb-8a13-8cc480214606 CLINVAR:967585 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c3d7f4fe-9669-4d0e-88b8-faa124f4282a CLINVAR:967585 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e21af854-40a5-4166-b849-ea135754a87f CLINVAR:1384361 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd4177ed-bf69-40c5-a852-9ff1c5cf7fbf CLINVAR:1384361 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6e0cacf-43e6-4fa4-a302-1026633475e2 CLINVAR:1458769 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ac0b32a-71d2-42c6-90d4-b9a50e38a5b4 CLINVAR:1458769 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19b4c163-ecfb-4156-9a21-d3f69557d7d1 CLINVAR:557260 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5bf4c5e4-333e-4860-9d7f-6587141c77fd CLINVAR:557260 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 487c7b00-817b-4187-8701-2ca156c7b06a CLINVAR:1455223 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a95b7de3-798b-452c-9859-f8f96bf866d6 CLINVAR:1455223 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 282cac22-6413-4fc7-9f05-dbd8b7a7111f CLINVAR:11920 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 286f623e-7705-4b52-9337-2687bd9cae33 CLINVAR:11920 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35315bfd-60e0-4505-9a2a-51704b303eef CLINVAR:551675 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fc867eb-da99-42a4-86a3-4972b5df8d54 CLINVAR:551675 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0afe72a-c277-4d8a-a99a-e6cd40dff0c5 CLINVAR:2198440 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7acfe2c-428c-435e-92af-a207d346b77f CLINVAR:2198440 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 782a7dd4-4948-4eab-8ef1-4a8920513f02 CLINVAR:557205 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e94c0fed-607f-4a48-9753-d733528f0ee9 CLINVAR:557205 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce81645-3fe9-4c79-9a08-27f8d603e8b7 CLINVAR:183099 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28ab0288-8036-487c-9edd-b7ef402c9b77 CLINVAR:183099 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e88ecb72-0e64-422b-b695-1ebb0f23f10d CLINVAR:450684 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6e43ea0-bbc1-4653-8713-e102fb225d22 CLINVAR:450684 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 336d3498-08f8-48ca-9da6-182f77d89b51 CLINVAR:251487 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea77c13b-e799-4494-837e-64ca1109cf1f CLINVAR:251487 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edf1dfd9-2524-4b73-b163-610e01c04c2f CLINVAR:18286 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cae70eff-4163-4620-8eb0-4deb0a6a87ba CLINVAR:18286 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d587b4e-6060-4e28-8508-c5729dd1a5b6 CLINVAR:464113 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9cfb917-1d55-49f3-9b69-551888466d72 CLINVAR:464113 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1d44e82-6cb9-4962-880c-c5283c207aa5 CLINVAR:1303122 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f13cd6e-9a08-482a-8884-ebbdc5c7914e CLINVAR:1303122 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf19e536-66a2-4d49-8d4e-477711bfc6ae CAID:CA345144077 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2676e79b-8a77-4e7c-9d1c-815405209987 CAID:CA345144077 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3987d108-5578-40ef-a159-89dd720e8309 CLINVAR:835545 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1eb79508-8d13-4d56-beff-561393b1d701 CLINVAR:835545 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1527a4f9-9541-47f4-83d4-ae0dfa371994 CLINVAR:1051987 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e0cc557-bd1c-4555-af1c-8ca48bfe97a5 CLINVAR:1051987 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e0dd640-f694-4c2f-9894-6d54c1205e8f CLINVAR:127188 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e395ec4-7bb1-4dc7-8146-cf8137928304 CLINVAR:127188 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12702d89-0ed1-465f-b9a8-429b4186ff1a CLINVAR:1034583 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6d3367c-8f1f-45c0-9f45-7a989477080b CLINVAR:1034583 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb9cff78-29d0-47ca-abef-3ed3cdd71592 CLINVAR:3391411 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2adc290d-7b52-487e-bf48-727ec0e29f7c CLINVAR:3391411 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94119431-fa7e-4080-9918-44a871ebc392 CAID:CA8603165 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca14743e-781d-44a3-885c-631877e9eb78 CAID:CA8603165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad70066-ae60-40d2-8373-f9c7f1ab736f CAID:CA399804710 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f352e26-ce42-4310-a80e-c6ced146187d CAID:CA399804710 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f0d280-07fd-4d0d-b7bb-b5d21c1303ab CAID:CA500262444 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a3bcf3be-e011-4fb9-b3ca-5a825161d473 CAID:CA500262444 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec292430-220a-4e5a-ba78-4e0a61ba1b08 CLINVAR:9734 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c364aa5-97a3-43cb-ae3d-b2ee966e1596 CLINVAR:9734 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54b7d081-046b-4711-880b-04c2ae8df53d CLINVAR:9735 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 236d5834-3e3c-4aed-ad91-98071ac3af08 CLINVAR:9735 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79a900f1-3b7f-4d6e-a837-748f5231fa2e CLINVAR:155880 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73511e49-be15-48ed-a902-011fc1e08391 CLINVAR:155880 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93631a61-3014-44e0-bff3-849fee187fbc CLINVAR:800504 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23cdd65a-f284-4d33-8874-e549bd20003a CLINVAR:800504 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec2311ec-ef07-4959-bd8d-f523ffa915ca CLINVAR:155887 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2c0a8d3-9a2e-4a6a-9846-7bd282fae014 CLINVAR:155887 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 537d6e25-32c3-45a8-a634-a88b20ffd797 CLINVAR:9706 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71202fb0-9540-494a-b9a7-e437e69e6ef9 CLINVAR:9706 biolink:is_sequence_variant_of HGNC:7460 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c5733c3-2418-4d50-ae06-585ac3be27ad CLINVAR:9660 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1abce564-41b5-4e48-80f7-c22511e80e0a CLINVAR:9660 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4953527b-e2f0-43ef-8c80-00477c5d39eb CLINVAR:3774391 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04c758c7-a07b-4c3c-837c-788e51ec66cc CLINVAR:3774391 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4dfab7-30a2-4ca1-b66b-1ee1dc3f23fe CLINVAR:9671 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6df6f82-4ac8-460b-ba2e-01eb3efe6770 CLINVAR:9671 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cabfee23-5b89-41e8-9368-96d8c735848f CLINVAR:9561 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92073bf2-3615-4bf0-a861-bdf5744601da CLINVAR:9561 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8de0a4c1-59d2-4cd9-af53-02aa87d68a3a CLINVAR:1802530 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92c1740c-0d12-4eba-b2c1-06a131619a5e CLINVAR:1802530 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0601605-01e0-445d-adbe-0c8dbd78cef4 CLINVAR:994542 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b89a6a82-fa54-4692-9052-9960ddfc6aea CLINVAR:994542 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 449bf7c0-9d3e-4832-9502-79c63c62d81c CAID:CA386972790 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e1f3b4c-5695-4ba0-b49e-111634044625 CAID:CA386972790 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d011ba42-cf9e-4e44-874c-ac0658820024 CAID:CA386966029 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eba0a082-a0fa-47b2-a0b1-06d4888a0324 CAID:CA386966029 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a0ff8ee-d916-4a73-8024-5431a5cad6f7 CAID:CA386966026 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a602d93-7e23-4dc3-bd10-60fddc3f3728 CAID:CA386966026 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21833377-455d-4926-92c9-48072cc4f603 CLINVAR:2758582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46dc1a5f-6777-4126-aac5-99b31eb56ee6 CLINVAR:2758582 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96b20bc0-ba21-40a4-aef1-47d37a5dfbd9 CAID:CA1310372689 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d1ca2c3-0b70-4f5f-94aa-b1800093de61 CAID:CA1310372689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48de0c52-241e-4cc6-8030-e8dabecc3e2c CLINVAR:1700663 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adee76fe-ab19-4f88-ac8f-4bcca3951a01 CLINVAR:1700663 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84c5ef60-d8d1-47a7-a8c7-f72aa1b357fa CAID:CA409108558 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5b2cfe9-e2ad-4c64-b016-71724e5e718a CAID:CA409108558 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb4c47dc-08c7-482d-94f9-a56af61f665d CLINVAR:143710 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9cc8f779-5b12-4316-b000-5d82855dba69 CLINVAR:143710 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ece95a79-83ee-4214-9771-1d10a81a1d86 CLINVAR:252226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 899ee4eb-0fca-42c2-a18a-a2d6a4d50c71 CLINVAR:252226 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2baf626a-cd1c-469f-8af7-a302837269e8 CLINVAR:252227 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3de0259-23fa-4f9c-81af-ac4a4f63dc5c CLINVAR:252227 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1c9f1a3-7ae5-4885-acb0-aea97a866c99 CLINVAR:251118 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb022aa7-cc65-4830-94ef-c9437926029d CLINVAR:251118 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3be242a-1c0a-4376-89d6-9f183b834e92 CLINVAR:251119 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b03ac54-52cb-4aa6-b8cc-789594ee24cd CLINVAR:251119 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1542fb93-17d4-455c-862b-25ca702b8f66 CLINVAR:889190 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a382a14b-ec8c-4012-8511-1acf5a7a8603 CLINVAR:889190 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba3b5f25-978f-485b-9665-043ca60f7ad9 CLINVAR:920443 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8f3606e-d8ec-448b-8d3f-e7ad407d11dd CLINVAR:920443 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 265e35f7-d605-458d-9803-3ab63811a758 CLINVAR:251909 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee5565e5-14b3-472b-998b-d13704116a53 CLINVAR:251909 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9b8c255-b844-471e-8c79-177b00a7dbb8 CLINVAR:987818 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d78ba836-32a2-44ba-920f-3c7834fc46a1 CLINVAR:987818 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03ddc475-f358-47b5-85c9-df0de7ce9ed4 CAID:CA409108532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 169bdcc7-09f1-46d4-a442-87d0a7c125e3 CAID:CA409108532 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 566a5cf5-b7ea-4fe0-a83a-ae0f1e65ca85 CAID:CA2573106208 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7cfb30ca-c5c7-4991-83e4-53122429c4d7 CAID:CA2573106208 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7667975-d7cd-42d7-8d2b-46a0f441228d CAID:CA4239711 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82881f39-ab8e-4ef3-a41d-96ef1a966b16 CAID:CA4239711 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaee4bdd-f704-4939-94a3-65d047b671b0 CAID:CA367400485 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d9cb591-43aa-47a0-ba38-272ceeadefaa CAID:CA367400485 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 464327f8-7ad7-4fb9-a9f5-4713d247352e CAID:CA367402020 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7fc682b-6231-4717-8cff-142338074cbe CAID:CA367402020 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4114bffa-3b40-4b28-8fb9-c65cfd26d39f CAID:CA367403047 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e6acb37-a052-4d35-b0e9-4b9dda4591ea CAID:CA367403047 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc25dcd0-9130-4506-bf4f-19c9176808a2 CAID:CA367403045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e26bc4d7-42a4-4460-95f6-2773ced5695b CAID:CA367403045 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6016066b-98b6-4396-86e1-fc5ce0e06b3e CAID:CA367403035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4bd0632-d2df-4854-8d7c-02978d381962 CAID:CA367403035 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1942b3d2-9991-44b8-bc9d-c0e2fbe8a77a CLINVAR:2500039 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad0a3fe1-2d6c-4021-8262-90edcb9be307 CLINVAR:2500039 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d9623b7-0e86-459a-9daf-c0ba8e1fecc5 CAID:CA367403041 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f40a071b-a520-4bef-a534-0f5b5e7dbf96 CAID:CA367403041 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c25d739d-5f5c-4e2a-9f1c-7185236ec461 CAID:CA367401329 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef4171b9-39dc-4c43-a4c1-82277c37aca7 CAID:CA367401329 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03bf491c-48c1-4f61-8235-0ffd5dd195a2 CLINVAR:447385 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b3687b8-ada2-4365-b7f6-927867078a2c CLINVAR:447385 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51f936b9-4a17-4066-8f0c-395f19778c55 CLINVAR:3383915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b89b57b-36f0-45aa-ab25-46e5361bdf4f CLINVAR:3383915 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99229e03-c297-4da5-881b-f75b34d1cafb CLINVAR:36175 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec55a84d-5a98-48fa-9079-fef2be67db61 CLINVAR:36175 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f10157fa-2c7c-4ea2-b014-5156c61367a4 CAID:CA367401225 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e4de4f8c-3e33-443c-afdb-5ae08d09ab73 CAID:CA367401225 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faf8f13b-a878-438a-9d53-718197ac73cd CAID:CA367401223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc4e4474-434c-45b6-a775-dd6d0f5b66ee CAID:CA367401223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f8ae33c-74a1-485c-8b9e-21f43b818893 CAID:CA367401222 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dd99c77-5769-4486-9b1c-5b3efd7d9290 CAID:CA367401222 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ebbd65e-fbb6-4452-abd9-e3b090dae37b CAID:CA367401656 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b805ff03-cf86-42d0-89a7-3c9b4556ac40 CAID:CA367401656 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0600a7c2-270d-42da-ba1d-6b060b6adba6 CAID:CA367401662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47b110e8-6d26-461a-8d3a-5d5f042e6ae6 CAID:CA367401662 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6a51e73-98e5-46c0-978b-a2361f567799 CAID:CA367399044 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4574713f-8c4e-4fd3-b93c-56f94bd0319d CAID:CA367399044 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3f85580-2093-4a4d-8f8e-afb1cf21d7f7 CAID:CA367399038 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41c30aca-38d6-4ba8-a345-187f7bf3b99a CAID:CA367399038 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b07e746-361b-4a5b-9926-e0bf7fe060c1 CLINVAR:311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63e67f81-887e-4ae9-8542-96ed1cdc075d CLINVAR:311 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0567f741-602b-42f1-bc3d-fb9ad9b5483e CLINVAR:100330 biolink:causes MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83c40d94-e398-46e4-ae9e-32493d042071 CLINVAR:100330 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 649bc807-db01-4174-bf3a-4b0945c573ab CLINVAR:100177 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e59c926-6bad-4e94-bc87-c89ebbb9fde5 CLINVAR:100177 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cafd8d12-55b6-4077-813a-66aea35be893 CLINVAR:100281 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c431b59-5215-4890-8013-e92768637d83 CLINVAR:100281 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78f5d38e-ad03-44a8-b84d-007768fcc6f8 CLINVAR:11500 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e413704-c8a5-4774-924e-c7ebfc9378bb CLINVAR:11500 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41f7bdae-4779-4fbd-a95d-bd563549baa9 CLINVAR:9572 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a519f421-3618-4c31-9a9f-a51546fbc196 CLINVAR:9572 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a1ab42a-7b80-4b68-86e0-15a1626f0cc3 CLINVAR:155882 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen abc82a5f-ac7d-42e0-898e-0e773ca2ef65 CLINVAR:155882 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 507cc115-c3e3-4028-9176-62e865b3e4aa CLINVAR:36342 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 823820d5-107f-47d7-9f5b-60921bc7ff07 CLINVAR:36342 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c8bb526-7783-4ed4-acde-61ad202bf0c5 CLINVAR:9557 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1250151a-f5e5-4f33-9dea-764a66fb29de CLINVAR:9557 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abdd94a8-7931-4428-acd5-178a18d2aaeb CLINVAR:188785 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfe0348f-ef8f-41a8-9636-3c59acf54a2f CLINVAR:188785 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba495308-97be-4517-976f-d01fb79ef12f CLINVAR:972798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e43fda85-f343-4d7d-91f4-aa3954cc0207 CLINVAR:972798 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7c0e743-2267-4edd-9dfa-38f67e297ca6 CLINVAR:3390364 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bcb6369-1b79-465f-9aa8-01858ad92317 CLINVAR:3390364 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caa99558-cf7f-4e63-9d89-e474db4cb15d CAID:CA414915806 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7fb0612-150a-4d19-abd8-abc21aea1eee CAID:CA414915806 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfe7fa37-50f0-4e34-8ad7-884a995ffdaa CAID:CA414916092 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cac369a3-d6ae-44e3-8985-176fddf40021 CAID:CA414916092 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 113d773c-9f5e-4600-aefa-ccb51fdd7f96 CLINVAR:627143 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fb15161-b19a-47a2-8e22-13245894e87f CLINVAR:627143 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ed5839-37af-4c2b-b89b-57103cccd9d1 CLINVAR:225114 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0916d0b0-f29e-4712-a1f2-2d8b67db9544 CLINVAR:225114 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b22f8eec-d14c-4234-91df-6283be2535ac CAID:CA414917900 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 352b17f7-b278-495b-9bac-2c46e7cbc8ee CAID:CA414917900 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 258924fe-1374-4d7b-b3dd-73bdab4bea00 CLINVAR:798429 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e3e4e201-ad46-4efc-834f-481ca2859eae CLINVAR:798429 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cac8b9a7-04d3-4457-9af9-88e44a2e7cad CLINVAR:30005 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1261e847-4223-48ae-9991-eaadf4fa1405 CLINVAR:30005 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 464d2db0-93c9-4264-9748-bf634b6ab886 CLINVAR:586011 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08b601ab-5c48-472b-8df9-0fc42be8186b CLINVAR:586011 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b666d16-a629-4890-902a-1db14e9c405a CAID:CA409110117 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4195fd9d-33da-4982-bb36-ca98839086ac CAID:CA409110117 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54671f77-312a-4ae7-9661-365199acfff3 CLINVAR:251736 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13ab3daa-c05e-4f07-8244-0b6bcf8caa27 CLINVAR:251736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44031676-1093-4f20-a377-11e11912039f CLINVAR:251479 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d41f9d3d-d816-45c2-8868-90e00dcfcf55 CLINVAR:251479 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af1e48d-aae9-428c-961e-fd48e0bf0173 CLINVAR:9550 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3d941b1-8608-4015-9ded-c05ba875945c CLINVAR:9550 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e928acde-e441-4679-a2be-9ea9d3555160 CLINVAR:40158 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b107890c-bd58-4bc7-8d01-efc4565b3bac CLINVAR:40158 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb8c982a-3746-4fca-9c73-95768cbc0a2d CLINVAR:9568 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81c1d98a-71f8-4779-9b9f-7b7e1bf17abd CLINVAR:9568 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cbceab3-ff38-4425-84f6-437845cbae84 CLINVAR:631469 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0acf620f-d07e-4dab-bb9c-08dcf8016004 CLINVAR:631469 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c35230-3597-4ad6-8f33-90a150208dad CLINVAR:689913 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbccf2ec-89c7-4d21-9536-d5a48036cbca CLINVAR:689913 biolink:is_sequence_variant_of HGNC:7492 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc8e46f3-29af-4fbd-ae54-a6b3a481d684 CLINVAR:692466 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cf24f02-3297-48c3-a5d0-141dcded6466 CLINVAR:692466 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd5bda34-d587-48ed-be24-4e2e0444eb09 CLINVAR:439962 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39e589b1-8bda-419a-8d0c-2ca61530a83d CLINVAR:439962 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72707057-5135-4449-bd3b-5834aeba6fb1 CLINVAR:692585 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84f73624-965e-43ee-af51-1e03daff2523 CLINVAR:692585 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a2357c9-9885-4d59-acc0-336884265523 CLINVAR:9656 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6636c199-bc27-4edf-b13c-b672156473f1 CLINVAR:9656 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67620c13-b4ab-4eb3-8a06-5714742f3b4a CLINVAR:370050 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1a37e0e-1e60-41bf-97a3-e397d890e0b2 CLINVAR:370050 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20c0379a-62f0-4cdb-a612-2f4248b78768 CLINVAR:692961 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e0b58e63-bf59-4c2d-a5c8-328577393b74 CLINVAR:692961 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2d50eae-a5db-4596-aa6e-3b8f0e83c6c2 CLINVAR:551295 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9a5b6c9-ce72-440b-93a1-35a02b9a8866 CLINVAR:551295 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8863c255-d760-4a98-833a-8d4c6b05b0b5 CLINVAR:2149933 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c09528b3-0d66-4616-8a9e-c81610af6bb2 CLINVAR:2149933 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1aaaa34-e1b5-4204-ac22-88c8e522ef03 CLINVAR:865841 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 266b4500-4d7f-431d-a3d2-3d82308dfcec CLINVAR:865841 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad3d247-38b0-4e9a-8b22-c4d11d200386 CLINVAR:98823 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e61c01a9-c3d8-4e28-ab4c-9db849486c11 CLINVAR:98823 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92512104-6e52-43e2-8996-5a973cb27117 CLINVAR:978979 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c09d2a69-460b-4693-864e-0d95f8d07d0c CLINVAR:978979 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d642adf-e15b-4149-a959-3203d2afdb7f CLINVAR:968598 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5bd8b67-af05-4131-974b-3f657d1079c7 CLINVAR:968598 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79059107-8884-4dc6-93d1-8a23cfa9326f CAID:CA902401 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c75ed240-ebaf-4bc3-a77d-01380cf1b727 CAID:CA902401 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 136f9c87-e979-4cf9-8519-536fe15f60fa CLINVAR:560496 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad50a579-5617-4959-afe6-14fb13bb9b78 CLINVAR:560496 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9719e4f9-dbfe-4619-bce2-9a166a1fe8ec CLINVAR:556178 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 703b8c9a-3f67-48e4-b44b-ff4fb37e3004 CLINVAR:556178 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8639096f-0b1e-42e2-b96e-7af2937c5f1c CLINVAR:98854 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39c99970-3c66-4e36-8a54-ca7754f2f042 CLINVAR:98854 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a8f488a-186d-4619-a6a6-e67fecbf0286 CAID:CA340744926 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a377d8a2-938d-4b88-8be9-dcda5e91d49e CAID:CA340744926 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e637ab5b-02c5-45c3-b1d6-34280989cb7b CLINVAR:942448 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49dc2258-7313-453f-8b86-8c7607084a84 CLINVAR:942448 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa49e66c-d241-4e99-aee7-2c07615b0508 CLINVAR:870346 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1871b259-c555-42ff-bab5-e30f872dae33 CLINVAR:870346 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76456d53-a3c0-4853-88a6-c2035533f388 CLINVAR:865946 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74ed3ae5-3ee9-46d4-b1f1-698bcb8f4579 CLINVAR:865946 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ab55f6-9efe-45dc-b4bc-a79ce6da9924 CLINVAR:13116 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11daabd8-ca25-4ca9-a8be-57da6c85dfa6 CLINVAR:13116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e535d2cd-a174-4209-b6cd-91348c840fff CLINVAR:521371 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b344efda-c7ae-4e7f-b7f1-cc2f1f6f1ed0 CLINVAR:521371 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dada177-a000-44a9-ab49-334881809bd7 CLINVAR:464114 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23301b4a-879c-48ca-926e-6f265ae06aa4 CLINVAR:464114 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 765d60b6-19c6-420e-959e-84c03eaef743 CLINVAR:1452968 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06859544-b7fc-4e49-b39d-74e5d7104200 CLINVAR:1452968 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c2cf35f-8ea0-4a5e-84b8-ab0edfffd1ae CLINVAR:18292 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1fde059-1655-4d26-a867-4f269b919154 CLINVAR:18292 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ff476d3-1b18-4c8d-825d-633f2475e1f7 CLINVAR:338429 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e732b737-e1a0-4a88-ad65-fe559bd180b0 CLINVAR:338429 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c80e044-1f88-40db-a18e-3de634b878f2 CLINVAR:129237 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca1ff58b-543a-4d57-a8b9-53f6e8342b55 CLINVAR:129237 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c00c4757-5e62-43ee-a404-fda25f848774 CAID:CA409110424 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 520f2555-eca8-4c90-99ac-176b95609161 CAID:CA409110424 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee8ae996-83f9-4091-bb6b-e8ff9adf21ff CLINVAR:811 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3c9cca9-8341-46fd-819e-28acb4918379 CLINVAR:811 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 146d341e-e73e-49cc-963e-1cfbc45fd0c5 CLINVAR:598113 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98f77c22-5839-4b3b-847a-868ae2a5ba25 CLINVAR:598113 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bc9a589-cce8-45cd-8ca2-2765197220fa CLINVAR:4022 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07c8d4b0-2545-43b3-8bbc-0cf30d117cd7 CLINVAR:4022 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab83c98e-8005-49c0-949e-026c06bc0322 CLINVAR:188484 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d15b5236-9789-4965-a88c-1b265922cbd8 CLINVAR:188484 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e97bb04-8dd8-4ed7-8773-0f37a04cace8 CLINVAR:375778 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen efa30ea7-a51a-4c3b-8341-c64efe191acd CLINVAR:375778 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23d24f51-743a-42f0-8bac-96e685ea15e1 CLINVAR:569548 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8864aad6-56e3-4977-929b-fe8ea428202d CLINVAR:569548 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09068800-c026-4eca-a163-3ce52780964b CLINVAR:439360 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dba7318e-c47a-4568-a3c6-536ac519258e CLINVAR:439360 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57ead1b6-fb18-4387-9577-a9dd0238835b CLINVAR:464139 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 81f18413-0b0b-4be0-bd92-2fec5295e37c CLINVAR:464139 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2e6dc73-6804-495e-b8c4-bb8a518dd1b2 CAID:CA915940544 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96c41b51-c940-4964-af40-a7f3aa142775 CAID:CA915940544 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e06715ee-eb68-4578-85cb-0c35bdfbae6b CLINVAR:420100 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e138627-650e-4e1a-be81-d19880e9103c CLINVAR:420100 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3dd1ec6-15a3-4608-8d81-6b19418d3e32 CLINVAR:280863 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99235e60-d609-4f9c-b358-f5c89849f745 CLINVAR:280863 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4de24fe5-f471-4ef7-9428-48f695bdea79 CLINVAR:817462 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4be78104-0c9f-4c86-bbb3-2542e4d28ce4 CLINVAR:817462 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d238ff9d-992a-4b64-865a-1b4730f5f184 CLINVAR:12881 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a93ee1d-18d8-4044-90b0-40514d494f21 CLINVAR:12881 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df09b570-50b7-441c-ab46-545f4784bac5 CLINVAR:1423525 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b32533cd-466b-4596-ae4e-4d1b3d419b15 CLINVAR:1423525 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0598363e-2436-4086-9d55-eafdfb118151 CAID:CA2581998917 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c0ecf53-699d-466a-a55e-3657a0be03ac CAID:CA2581998917 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee7e4ea-daa0-4d83-b070-5fe719caa78d CLINVAR:428153 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02585d17-f79a-4e24-85a2-ebdcc75044ac CLINVAR:428153 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 226d85c2-b0bc-4063-bc23-4bac17da9ae1 CLINVAR:433598 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e25f67f1-da4f-4994-abdf-5e07743f2c68 CLINVAR:433598 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 688448b9-41cd-454d-b071-21d18fe25da3 CLINVAR:9213 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f6beaea-add0-4a10-a5f5-085e6b56f0f6 CLINVAR:9213 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e824a30d-e630-4f42-8958-b530bc8349f2 CAID:CA409110369 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b7cd954-fe91-4dd9-8647-5c1da9329496 CAID:CA409110369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 985956e3-16bc-4525-87d5-3caabe582b89 CLINVAR:1687103 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 698d5188-5936-4dcc-9730-a74d125d9d0a CLINVAR:1687103 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 020cbdf3-0023-4be5-89a9-99d9bb553049 CLINVAR:18033 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d162a40-b9ab-46de-9093-43ade1a9d8d1 CLINVAR:18033 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee2bf2e1-b0f1-4358-a53f-04c122cbac4c CLINVAR:18020 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ba1ebc5-d65d-4829-8282-eacaa5244216 CLINVAR:18020 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b13416fe-a59b-4b5b-890d-14c52b359575 CLINVAR:18007 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a8a6f497-f2e8-46a2-bac8-8b8304789954 CLINVAR:18007 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7dff5c9-fd2c-497e-bf99-e92d5e9b312c CLINVAR:626996 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06c011f9-84f8-4b9b-9c1c-516b04a3587c CLINVAR:626996 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9a2551d-1f3b-46cd-b82a-ac62aa07566c CLINVAR:18032 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26d08350-5e3b-4473-b038-fb2f1c69bbc2 CLINVAR:18032 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1ea310f-976e-4804-b98e-ae4dcf7d08d0 CLINVAR:2734038 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ce91667-10ea-4f39-b42d-6d75238a1012 CLINVAR:2734038 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4dba387-686b-4e4a-82ad-11ce501daeba CLINVAR:2505626 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfc22b3e-d0c1-4b79-a6ac-c7acda2c1ab6 CLINVAR:2505626 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f9cc848-6d2f-4c6f-bfc1-768412973366 CLINVAR:804125 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce7b4728-4ffb-496d-87d0-4b21e246d9ec CLINVAR:804125 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75c1614e-ce02-4989-ae4d-3665aed5ee58 CLINVAR:160202 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e43fb84-9856-4229-8ae6-b7097824a9a6 CLINVAR:160202 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57404f30-55b9-4608-88cd-042bfe8d208b CLINVAR:200921 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen baa5ea5c-d742-4666-81ad-41b11b666a75 CLINVAR:200921 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcdae0ae-d280-4b3f-a7c5-087c3561b951 CLINVAR:183124 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fedf9c51-542c-49ae-8814-ae3a5e14396b CLINVAR:183124 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f125812c-7c65-4b07-a58f-ad7abf68f6f0 CLINVAR:252012 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42b304a6-0359-4a5e-a7a2-da390f00d018 CLINVAR:252012 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39812fe7-518d-4518-afd2-8a2428c1369c CLINVAR:441220 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f13e9997-8013-411e-aa9f-0b840f2135fc CLINVAR:441220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56d839fa-9aa7-4746-aa87-7ea6c783495e CLINVAR:252014 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d98b298-39e3-4431-a749-3eb2f87e7d2e CLINVAR:252014 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e8f74b3-97eb-4edb-ad40-968d4b36a5af CLINVAR:11909 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16d0e961-134f-4d0f-abde-f9e72fb0f1ed CLINVAR:11909 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 529e79a4-361d-48a8-a662-dca8fbe44724 CAID:CA2573332225 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ab45eb1-98a9-4612-9864-d3c46c47157a CAID:CA2573332225 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af683d23-de61-4024-9aee-6b1d18202358 CLINVAR:11908 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98aeba1f-38ff-4421-80f0-3ced28abdddf CLINVAR:11908 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 928fdf7b-9156-42f2-a3d1-b59d8ac31703 CLINVAR:11910 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3bb5a87-376a-4352-9c55-fd32f65e89a2 CLINVAR:11910 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b73f35fd-845d-4592-8af0-5b11a065cb24 CLINVAR:36211 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24a541b2-0e0b-499e-839a-7d6ef702a568 CLINVAR:36211 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba74a731-03c5-4a30-855a-8751a02c31c6 CLINVAR:931741 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f1e9f6c-3799-404b-9cef-775728d1351b CLINVAR:931741 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 938f096a-93fe-43fb-87b7-878274bb6653 CAID:CA409104248 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc2025e2-608b-423b-9fb6-e09e7f3c9002 CAID:CA409104248 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7430514-b2d4-4ebb-bd2a-5af119e3d36e CLINVAR:447400 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d7ad3cb1-af37-4dcd-a43a-573ba1ba11e0 CLINVAR:447400 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f25e278e-4dd6-4f1d-a03a-b7fe63d9bfeb CLINVAR:1031829 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a83e702d-eac9-4e5c-b7c9-18c464302aff CLINVAR:1031829 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de45201c-22a5-4979-b76b-8acbab7793c6 CLINVAR:427190 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c53896dc-d6f3-43b6-855c-3d777ea4fd6b CLINVAR:427190 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b6ba71c-5e5f-4cb3-ab0d-bea870437e03 CLINVAR:801630 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c4b7e02a-0fd2-4e75-b972-300336029c47 CLINVAR:801630 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64bb64ce-22c9-45e9-b06f-7ee004ee9300 CLINVAR:431989 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8afc3ab5-566d-4f7e-b106-dcc656afced9 CLINVAR:431989 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 132cdff5-637c-42de-ab0d-d4a2b23fd6d1 CLINVAR:654469 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 398bb4a0-52e4-4e5c-b552-7f614b4152af CLINVAR:654469 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 704a2c70-2a0c-4395-9a15-fa100e29923a CLINVAR:2136532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93a1f503-1772-4c9f-9d2c-e91c584c2b66 CLINVAR:2136532 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e36c7b-6700-4716-98d6-41b9f47b358c CLINVAR:812824 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9d69834-5233-4d00-9f86-ee443797bafb CLINVAR:812824 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cf06bea-df03-4b88-a9ec-b28e7711e394 CAID:CA367403885 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8ce87bd-5f19-4d75-b546-f53003261966 CAID:CA367403885 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42c48101-0cb9-4dac-9921-8ce8272f927c CAID:CA367403876 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d7c0fae-380f-4389-a5e6-8928d09158cd CAID:CA367403876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d34fd99-7778-4249-b210-799b3e611e62 CLINVAR:1405428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb51c489-1fb8-4c10-beb4-27959be92d40 CLINVAR:1405428 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 124b0b18-a589-46b6-9c13-7cf67fd250d8 CLINVAR:1676825 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b778539-2506-4221-ad24-0eaccb054ed9 CLINVAR:1676825 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df54f2a9-e0a9-4b31-823d-2c54cad1c627 CAID:CA386960416 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8e3a33bf-e446-444a-b2e0-4a4cb6ee6345 CAID:CA386960416 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f6909dc-08e8-4f27-a228-5180b07e30c5 CLINVAR:3393497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4680f1f-e4e7-4702-9c05-e2eb739adc63 CLINVAR:3393497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c37e8c03-9c41-43f0-8385-5e1cf46c2e69 CLINVAR:1761584 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9129be04-bbf1-4c0e-a79a-8f16735091ca CLINVAR:1761584 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7efdced5-90a9-42a9-b433-de64c76ed6fc CLINVAR:1679313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 904f866e-381b-4b17-856c-7631c80325ae CLINVAR:1679313 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1edca0f4-1966-4204-bc03-f9c1e48cdc0f CAID:CA9870528 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c08bd957-a0c2-4c8d-9a32-f860a1810bf4 CAID:CA9870528 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9855531-4e91-4289-a650-fc655d0410dd CLINVAR:425882 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 15842cbe-5476-4560-ab98-4e65f4a8ef48 CLINVAR:425882 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f4d19a-19bc-4f76-aca0-4473a578d14a CAID:CA409106085 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32a1c852-ea20-4ff8-b466-3465e35257b4 CAID:CA409106085 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e04c664d-13f7-4c2c-80f7-03d0c96902cf CLINVAR:1399408 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e516f3b7-a960-488c-bc76-ac18ffe2a45e CLINVAR:1399408 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f91e78e7-2e09-48a1-8575-6eb877ba9cbc CAID:CA2573320359 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49e3cc35-24e9-4b91-aa45-39efe0579ad2 CAID:CA2573320359 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 029340d0-eafa-4575-a8bf-df9f07a847b3 CLINVAR:812825 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43dea96f-4f72-4868-8310-0c625d1310f6 CLINVAR:812825 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dc87305-7617-4795-bdf0-28d7b1eff0bd CLINVAR:425892 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2863af7-cf2b-40a1-b88b-c8f1f0fe84ff CLINVAR:425892 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6d1f987-0a20-48b2-8345-ebcc00c6c319 CLINVAR:812826 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79f0d5d9-2021-45dc-8086-d9a2f315f873 CLINVAR:812826 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb356140-d2a1-4325-9f6b-d682a04d671a CLINVAR:425895 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9118886-b2ce-486b-b56a-75d07bf98955 CLINVAR:425895 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 148dc9a1-0ab8-4794-a177-d22d6850502a CLINVAR:65961 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 37d86aca-a50f-41e2-9e14-c9a364da12ba CLINVAR:65961 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e80b6ec3-b27f-4be1-a2e5-3c49c21d62f7 CLINVAR:65923 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 290f2fd4-2cd5-43a6-b3e5-6e34946e2884 CLINVAR:65923 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bec63025-a547-43c3-8f32-810c6f17238f CLINVAR:328993 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2473ca18-7b8f-4e9c-8f88-9526ff793737 CLINVAR:328993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76efedc8-4e7b-4f29-bde2-7685be55194f CLINVAR:212104 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 96379f72-0cea-493e-a66b-84fc21d21f95 CLINVAR:212104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44ca0474-8195-4418-86c3-73c0fbf70042 CLINVAR:651289 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bd8b00a4-47b9-4469-a9ce-84c07577a420 CLINVAR:651289 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a239512-65e7-4948-bb7f-b9a9296d0965 CLINVAR:571399 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69f2a20f-b32c-4235-b825-614913f98810 CLINVAR:571399 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45c34aba-0ba0-4572-af10-0389a367824f CLINVAR:425897 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b036d862-d4d8-4f75-a587-4c864daa282c CLINVAR:425897 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f36a83ad-c553-476a-b1f3-97e9a5ef63d5 CLINVAR:812827 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0aad653b-3037-4297-98ea-f5e0e7089cc9 CLINVAR:812827 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f817d02-a27a-405e-8b58-8b09c1f4d4d7 CLINVAR:425905 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 906d42e8-cb66-46b3-bdd0-c8adc5b16445 CLINVAR:425905 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a884c886-cb8f-47a9-92d0-4c57f6f8d5dd CLINVAR:10573 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fa377dfa-8972-4d19-b505-88efe1dbfa3b CLINVAR:10573 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b8ecc49-3760-4cf7-9441-b49e0c96a500 CLINVAR:811516 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31361d6e-3399-4d33-9e90-d43abd1618fe CLINVAR:811516 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27c9dda4-7936-4385-80ab-ad5b510e80b2 CLINVAR:140555 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a8607e2-9622-4c93-8c7a-6cc46bbd518f CLINVAR:140555 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eacee7e-ec81-496b-99d9-f737ea32f93d CLINVAR:2166 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb178f80-c183-4589-a453-b5bc8376e6ab CLINVAR:2166 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dd80e02-89e7-47c8-82df-5a7846d67958 CLINVAR:282006 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c6fc526-b153-4e7f-8322-dc30bf14344d CLINVAR:282006 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4dff5dd-739e-4703-afb6-4192adb7f01e CLINVAR:627324 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b2ae1422-ce2a-477e-a319-16dd22e43316 CLINVAR:627324 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86754fb6-7453-46d8-9a14-25bf0f945ac2 CLINVAR:195634 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f545e587-1d46-4848-a52e-d4c5eb2f01e9 CLINVAR:195634 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd62da24-7db8-4fb0-8667-b3284e926425 CLINVAR:439677 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b18ba0b-403c-4a74-9b16-c8bb63638b2e CLINVAR:439677 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cee93ba6-3cba-47e8-9ce8-3fcc400a599a CLINVAR:96688 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db73a178-9186-4e9c-95ef-bfc01172b409 CLINVAR:96688 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21fffe28-b28e-44d6-83a8-b9c26bf9d46e CLINVAR:468825 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4da2e382-61bf-40be-9c3d-6760744fa33e CLINVAR:468825 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 195d5ede-7ea8-499a-a7af-186a8f905f4f CLINVAR:286467 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d97e320f-f995-4959-b15f-a8a0b39f4a07 CLINVAR:286467 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e314f1ef-05b9-4941-8603-920ce722a913 CLINVAR:284518 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8dc61e4-1248-40fd-bd15-7eaf4e2e4008 CLINVAR:284518 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a47e80-31f5-4023-9324-7355cf42edc5 CLINVAR:286592 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92f3d19e-cd03-47b8-a39b-01f8d454c1f1 CLINVAR:286592 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cafcb285-50e1-45d2-97c9-13b5f9c22e64 CLINVAR:17615 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7540af52-9f34-4ad3-953a-8eec72d06ab2 CLINVAR:17615 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e3ee9f8-fc75-42c0-85e0-d8ca51bc4ca1 CLINVAR:496977 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f19b67e-8810-4a37-8eab-9eada673c799 CLINVAR:496977 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1df571ec-bfa2-41a2-bf0d-f9ec7bbc02ed CLINVAR:92411 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20ac22d7-eb4d-4583-877c-977662e8befd CLINVAR:92411 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87e6262c-c182-4616-a04f-fee6ed46825b CLINVAR:1072479 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6d9600e-26f9-4636-9e36-ef755ac21093 CLINVAR:1072479 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a99ff94-3636-4eb5-ad03-ad48c5aff3ba CLINVAR:217159 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37cf03ad-57aa-4207-98cd-82bd3933c0a8 CLINVAR:217159 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afede50d-89f6-43e7-ae5a-2095d2207b3a CLINVAR:282623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5701e4bd-0d25-473a-b8c5-3c17b6588953 CLINVAR:282623 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea423982-c417-432e-8974-1245824cc124 CLINVAR:284946 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f3427c1-1c24-4d61-9d58-1858cf676b8d CLINVAR:284946 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49a7fe74-a364-4bc8-b460-f9a5e21f74c2 CLINVAR:594086 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85a6526f-e930-4891-9324-fd537e719b2b CLINVAR:594086 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8071c6c6-a27c-4910-8c3b-26a41ae0acc4 CLINVAR:452720 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40babdf8-4f41-4aab-8942-db88f2bbb513 CLINVAR:452720 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d43702cf-29fa-4e65-9769-6a200df25961 CLINVAR:37202 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a0753bf7-0e8a-4cee-8d10-f125fc07f9ef CLINVAR:37202 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e97c21-c80f-43bb-a61c-73c0f1628f26 CLINVAR:497670 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22970541-82d6-4c5b-95eb-d2bb42795c4d CLINVAR:497670 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaa9ff26-c3fe-448a-a669-ac909f9742c2 CLINVAR:198031 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9ba868f1-c10a-4c87-85e2-5e787248fb7e CLINVAR:198031 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df5e1151-071a-4d4d-b887-f91e55eeade7 CLINVAR:497672 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 095bb367-f709-4a38-b52c-bab75027b6e9 CLINVAR:497672 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b33af99-453c-4d56-8e4c-1bb0bc7c3ba6 CLINVAR:9437 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 760778d2-7721-4a76-bb34-478e0f539381 CLINVAR:9437 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecce83c2-d32d-4064-a00a-ce27668fa748 CLINVAR:978048 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab030d51-7a64-4383-ad2b-d74705512e6b CLINVAR:978048 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3626562a-8abd-4956-b7c5-47b4282a6f53 CLINVAR:523842 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 20f8cab7-5918-4a31-b40b-78dc134b87f4 CLINVAR:523842 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef1b8a21-97e1-4a65-bb22-377cdff85569 CLINVAR:284504 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77ea3c0b-5f65-4321-8de4-5984aa205364 CLINVAR:284504 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd828f5a-a02f-4f5c-bd17-c99e54375dd0 CLINVAR:370474 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 260fe33d-35dd-429c-ba66-fc1ac1574a9e CLINVAR:370474 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25bc1a0a-7902-431e-958f-d5a75e2505e1 CLINVAR:551805 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 929b4dd5-19d3-460a-9c75-b491092cca64 CLINVAR:551805 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea15153-e229-47ad-b892-d9fb32b5fa90 CLINVAR:8714 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 11420b14-a10c-40e2-8789-8e459f8498df CLINVAR:8714 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 020ad57d-7305-431f-a45b-aa8ff45cb228 CLINVAR:1451826 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1380bb57-4189-4251-94b4-27a738550cd3 CLINVAR:1451826 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e761536a-c936-4457-a033-9c9f08312eae CLINVAR:289650 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53670dd0-7291-401a-bcb7-1c2a5afb31ff CLINVAR:289650 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eae20ef-38bc-4464-9a29-cb3640f8f137 CLINVAR:836267 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e027bc0-5f77-433a-b0b2-977ed22ce2d8 CLINVAR:836267 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9090c4dd-084e-41e3-b15b-a5274e4b8020 CLINVAR:189243 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f6ba8bb-b8ee-41a3-a814-00a7ee9d607a CLINVAR:189243 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c12b8159-351b-4534-8447-1b3eb8360e7c CLINVAR:2008 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9657d476-d0f6-415e-94f9-f3895438d8f5 CLINVAR:2008 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a32f15f-261a-47ef-865d-f4d813d60f80 CLINVAR:192194 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a453828e-4eed-434e-acab-74867b1834ee CLINVAR:192194 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db51f0c2-600b-48c3-9a3e-912443db0b49 CLINVAR:652862 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81dd9958-3e07-4b75-9fc1-9aa5ea2ea234 CLINVAR:652862 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbbb7dcc-c865-4e7d-bf27-590035a7b4a0 CLINVAR:8172 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c85d26d-4c64-4050-b2e6-9576b6d5a38b CLINVAR:8172 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6a7a44d-66c7-45be-adda-449f25d09306 CLINVAR:202088 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fefb9ca-e96e-4ecd-8fa2-63242e8ca7c0 CLINVAR:202088 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 094fea83-5705-4e72-af85-bdf9ee8863dd CLINVAR:1677453 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32713fea-9c3c-4066-b9cc-fe4afab994c2 CLINVAR:1677453 biolink:is_sequence_variant_of HGNC:10807 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d28be05b-e13b-4008-9a86-cd664feb7b4c CLINVAR:288644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 316ad9e6-8cb7-4058-bc9b-7f382c6203a1 CLINVAR:288644 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce0b5a0b-c6dc-4f7f-b51e-fe7441aa16df CLINVAR:217224 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1aa893d-7d8c-4217-a5e7-4899a6badb05 CLINVAR:217224 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51855151-e84a-43d2-a6a4-d73583f30283 CLINVAR:290209 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 718ec89a-79f1-47a4-acb6-baa6af6033aa CLINVAR:290209 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d856140-6563-44c2-84d2-328dbb2da567 CLINVAR:94365 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df6b0bb1-da31-4382-8d66-10c4bd5b00ab CLINVAR:94365 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6e3c57a-e7d4-44f4-9b95-3bbf821c5d48 CLINVAR:282861 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c9e0757-ddde-4280-81e3-f350ff84af7f CLINVAR:282861 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 816b652d-a930-4ec9-9be3-9f72c19645da CLINVAR:195490 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 495896f1-0187-4a6d-b33d-6fb7126717a8 CLINVAR:195490 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f723ceed-5ec9-4660-b0d7-386698fc57a1 CLINVAR:94291 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04ecc56b-f631-4c04-8e7b-210690b22796 CLINVAR:94291 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cd629a0-8dbc-4987-9634-fadfc71625ae CLINVAR:936623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64603eb9-3866-4680-8b49-f1cfc1cf5d60 CLINVAR:936623 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c6ceafb-bbe8-481c-b281-ed8f2d22c869 CLINVAR:6685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca937abf-abdb-4153-868a-d8133e057d78 CLINVAR:6685 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6c5dc2b-fb62-494e-9f2d-2deb0af5274c CLINVAR:94347 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15bae739-9678-4a10-8c9e-65e28f0470e4 CLINVAR:94347 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54b16f0c-2702-4ebd-b080-c29f78fbe897 CLINVAR:2674990 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7db5249-cb03-4b06-918d-7dfe0fc41c33 CLINVAR:2674990 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae8e4489-3693-4df5-b829-e23436c0d0eb CLINVAR:288647 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccabc0d4-bd63-4edf-bb92-e42dc4f476f6 CLINVAR:288647 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9a11e3a-d5c9-48c4-ac6a-1fdeef299853 CLINVAR:2734216 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa500f7e-6418-4456-bec7-47da5136ad07 CLINVAR:2734216 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca548a7-acf5-4f9d-9ba5-ad08259f2183 CLINVAR:283205 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b69c1fd0-b5af-42ad-81c8-3cdf557cc24c CLINVAR:283205 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1edbc46-9d52-4559-b47a-aafc218edd4c CLINVAR:6684 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c4a75d56-f9f8-4de9-b690-46e7835d8c1a CLINVAR:6684 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e354b434-724a-4411-812a-ca3957042d9f CLINVAR:1803708 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4d2f082-3d8f-414b-8264-3d64aa2c4bf8 CLINVAR:1803708 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b41f0d6-cd6a-4cf2-9c45-eea2fa29e8b8 CLINVAR:94278 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79c0bd9f-55b8-4509-8051-f0f620068fef CLINVAR:94278 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2184aab6-e9ee-428d-859e-238b991e72c5 CLINVAR:555968 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8e9c8b9-856d-4931-ae6f-ff0f5a0558e2 CLINVAR:555968 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85dcc1bc-8471-497d-80d0-4279c95d0555 CLINVAR:312 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 631882b8-8015-4d02-bced-05170dfca3e7 CLINVAR:312 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 172170f2-b7d9-4074-bc23-7934fee9d153 CLINVAR:100208 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88151fa9-72f4-418a-a6fb-b4e1400451fb CLINVAR:100208 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65ed9339-365a-4c87-b31e-60b3112f079e CLINVAR:813985 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd5abaa9-1885-411f-9cc8-c30fd1b3988b CLINVAR:813985 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef51229f-5a3e-41e9-ae45-b3e2148f84ba CLINVAR:653601 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3ea02ff-c57f-4f73-ae10-970113dade44 CLINVAR:653601 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a95b20e2-4730-4fc1-a3b9-7cec01913484 CLINVAR:17621 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b82321fb-45fc-4b34-949b-b3f92b9345fb CLINVAR:17621 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0721adf2-02ec-4ee3-9295-f5418a9e4bf5 CLINVAR:217151 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2acc9b5-6541-464f-a94c-99a1b9fb64f2 CLINVAR:217151 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f70a91-649a-415e-910d-0023b170a4fb CLINVAR:620114 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41a52ccd-b341-401b-9768-5d08c62f30df CLINVAR:620114 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3238d573-1b94-4adf-82fa-34a41af3158f CLINVAR:17618 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ef7f9e6-93be-4a15-af06-501be9a85f9b CLINVAR:17618 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6043eeb0-1fc3-47b6-bc0b-fae18e6ab288 CLINVAR:501754 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5746f749-6d4e-4422-a956-59e05f55455d CLINVAR:501754 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a52f029c-d768-4cf2-927e-3101687c9474 CLINVAR:92408 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d36c4a5-0e3f-49a3-bf4d-34af8f663136 CLINVAR:92408 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c7f55a6-5ea9-45e1-ac55-7bb3a7438bc6 CLINVAR:65693 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64458acd-e338-430b-834f-9ceb97fe4b1f CLINVAR:65693 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35c96e57-3981-4067-bda8-5a5fbd506183 CLINVAR:197624 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8443cae-2e9a-432f-b6e5-851a8dc54e4f CLINVAR:197624 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 517b214a-466c-47da-ab13-dc4f19f79a32 CAID:CA2830782976 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 607e0bfe-e994-4761-afaa-629fedaa5422 CAID:CA2830782976 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 845e2282-b393-4f11-8765-c5d9a525e640 CAID:CA2582131592 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b344ee10-7120-4142-9763-ece8ab68eb4b CAID:CA2582131592 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cb7e1d5-13ab-48d2-906f-a3fb48be79ef CLINVAR:217147 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 90cad68a-2616-4682-a8cb-3d8fd6045f97 CLINVAR:217147 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a5e7a1a-4ff9-4246-b6d9-7cf3289c24f7 CLINVAR:17622 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc600c31-2529-4f00-941a-b423b903f9c9 CLINVAR:17622 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b630b36f-8334-4d36-8e69-7add311a7555 CLINVAR:166790 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0593a426-b758-47fb-9f38-9d1e3c2ac647 CLINVAR:166790 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f01cc6f-952b-4584-b27e-ac456beceb38 CLINVAR:283259 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dfc02e41-ac26-4c28-9578-2cc6847321e2 CLINVAR:283259 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b50806a-4031-444d-bd1d-8ae62ec39296 CLINVAR:289082 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 199a6067-c7b3-462c-8bcf-696c96f4a1b0 CLINVAR:289082 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73816ee0-7ca0-4a72-87e2-a81beab6d64c CLINVAR:282873 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a6a37280-2dae-4b21-8e06-67b359cb8662 CLINVAR:282873 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95440959-7987-426a-b090-a885fb41151a CLINVAR:497182 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1176bc5-5cae-4904-8535-991923dfb60e CLINVAR:497182 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70c3b1e0-2b74-421d-8ded-a4bda228acda CLINVAR:554906 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4daf7c8-5ec5-4dbc-b5f5-8e52247c407f CLINVAR:554906 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 762caf5f-c900-4bf9-8877-ddad68ca1dad CLINVAR:280226 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 947e6f3c-e504-4f29-8d18-2c55ce9b3e37 CLINVAR:280226 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8d09c39-554a-40b3-9032-bca466ca0cbf CLINVAR:1429635 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb7eebe7-4d33-4e53-96be-f171d6941a49 CLINVAR:1429635 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e222c6da-e6c4-4f33-a20f-b49886081a14 CLINVAR:651752 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82d620a0-0f5b-4661-b6ba-b500788acee5 CLINVAR:651752 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14e5bf59-4450-4bb0-a717-521358a2bb44 CLINVAR:499193 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b3df6906-8066-4796-9acf-5206ea4cd94c CLINVAR:499193 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53edb6e-2d6b-459b-8735-db9e24711bb0 CAID:CA2695237858 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a676b60-5670-4a21-9c8d-188730b91465 CAID:CA2695237858 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2882fd31-85ed-4ff2-b29c-9d0c0435cbec CLINVAR:8712 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f7a07786-01a5-4f2d-bb71-4c677d6b73be CLINVAR:8712 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a68b66b-8d61-46d4-8cab-164a9bfaa600 CLINVAR:804100 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 70f3ccd0-b934-4ec9-82e8-90053bfee6f4 CLINVAR:804100 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1e3dbd5-17d9-47b2-b37a-0d1537430bf2 CLINVAR:9439 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6624b899-94ce-4344-985c-6bbad277c234 CLINVAR:9439 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d68bed0f-6bb0-409d-a163-45d8ac718ea5 CLINVAR:427187 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61f31c7d-c7a2-4113-be55-9b750123437b CLINVAR:427187 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78c02f8f-b30d-43f8-9874-3545eb2fbeed CLINVAR:92302 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd2ed644-6e65-45a1-944e-324de5d0e546 CLINVAR:92302 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb953d08-4a19-4cdf-aa91-cad6ece2ad13 CLINVAR:1336429 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c826d5ae-392a-4014-b97f-a3d54ab33625 CLINVAR:1336429 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a667e4b-b687-4a86-8953-c78c20fe769f CLINVAR:217250 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de3bda55-0bf8-415a-895a-16b270b65a42 CLINVAR:217250 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13d59d1a-cb0b-4f5b-9b0c-719b465f8e13 CLINVAR:197402 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d4b185c-b2dd-43b1-8942-9d76a9fbd24c CLINVAR:197402 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb7ae326-0ea2-4555-8055-193b25b9ee51 CLINVAR:2164 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56ac935b-1e48-4e74-88d1-cd8579bea616 CLINVAR:2164 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 861e0c79-036a-401a-8ec0-1fee9bf1455a CLINVAR:280322 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d357d473-d982-4682-aff1-e1bbedaf7b4b CLINVAR:280322 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76355ff2-8869-4078-9d71-55cdd672a21c CLINVAR:370775 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27ad6be7-a4c4-4982-8af1-772361966a68 CLINVAR:370775 biolink:is_sequence_variant_of HGNC:10806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38fbf4bb-cac7-435c-ac1d-dd9ddde865aa CLINVAR:252122 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d342b07-667d-4cb6-adb8-59907765b811 CLINVAR:252122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6c64f5d-9480-4f2d-8a0b-ea65211c5ed2 CLINVAR:252121 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5aed326-529e-4565-aa8a-2b2a3a4caf80 CLINVAR:252121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11ac9720-bb48-48fd-a396-227793b43e29 CLINVAR:252132 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a7a66eb-97d9-4908-8aca-04ee4944d367 CLINVAR:252132 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc245836-7abc-4bf7-8ca9-33a536a6c331 CLINVAR:979168 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6de533c2-dd67-47f6-a6fa-81f04832d465 CLINVAR:979168 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f88e4b1-5bbc-4ff6-90fa-eb2c7d034718 CLINVAR:250929 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80c53df1-c25a-4bc1-8df2-f5a788124843 CLINVAR:250929 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f54668-30f1-4a20-8cab-6c233cf9866b CLINVAR:407699 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aceeb847-aed9-4e5e-8a8d-15c69ca8ea85 CLINVAR:407699 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b19ec6a5-a769-47c7-b452-c308849b3c6b CLINVAR:3572871 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8288770-3f9c-46b3-8f5f-39d1153aeceb CLINVAR:3572871 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24592942-7ecf-4a46-bfbf-bb91015ce73e CLINVAR:189177 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f24fcd9-2e02-473d-93c5-ef909e0ec61c CLINVAR:189177 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe24a8d4-5dc1-4aea-a218-e6ee5729bafc CLINVAR:232248 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 424945f8-23e4-4c88-ab47-44d52c12a7cd CLINVAR:232248 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29e23f69-4fda-4179-bcaf-7b88e8b4209d CAID:CA2497029997 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 743244f5-78f6-40e1-baa6-00bc55f92098 CAID:CA2497029997 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d02928db-3581-4039-a901-c1ae584bd167 CLINVAR:3148828 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 429925ee-7cb8-40ff-b2fb-e782fbf6107e CLINVAR:3148828 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0daf5f21-b899-4360-96ee-ce6a3215fe4f CLINVAR:646712 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76afc0ae-c88e-4e26-8181-caa2d476f549 CLINVAR:646712 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cac9fc1-a69f-44ab-80eb-83ef059a0ea9 CLINVAR:482526 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 003d32c7-5beb-4bae-adf6-ad9eb2b5eef8 CLINVAR:482526 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87b01ac0-21b9-4172-9c2e-dd058dc125fc CLINVAR:135780 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fa66391-f72b-4b18-9196-43cef994ed49 CLINVAR:135780 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d59edf0-c2f9-4765-a794-26a3884eec4b CLINVAR:846136 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen febf2636-afcd-4878-96c6-d8bed32654a5 CLINVAR:846136 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d85f3bf-0ab5-498b-9cad-fa20ab57278a CLINVAR:1422249 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1aee991-f48a-4c37-a609-0c210aad7c41 CLINVAR:1422249 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed5a3a03-3648-4ff5-86d2-f6f17d298e5f CLINVAR:420008 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2125baf7-d724-40f9-ba5a-abf6e1b0e55b CLINVAR:420008 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdabd24b-4ea2-4cfa-b098-d6d57526d1d7 CLINVAR:857860 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fc2687f-dc1c-4d7c-ac15-c1ad9e9ae3c0 CLINVAR:857860 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41b190a3-8705-49dc-bff3-035c45d80fac CLINVAR:142355 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d58ef48f-ec7b-49d1-9293-0f37360d12af CLINVAR:142355 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03c8bf31-8434-4303-95f3-2a0124d2d332 CLINVAR:371636 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 121c3be6-f9bf-444f-8d6c-9c34cab956a8 CLINVAR:371636 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab079e0b-5c1c-444c-8a5a-a76ee73f5d58 CLINVAR:185137 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 334fff9c-ffdf-43e4-9cb4-e904256b189f CLINVAR:185137 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33c7de77-b504-4933-997a-55e98d45a29d CLINVAR:826252 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecf87d36-9a36-4c2d-81bf-9d84e4d0e74a CLINVAR:826252 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aaeff87-0c58-4faa-a1dd-59a8d0d08f06 CLINVAR:407482 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69b6e8f8-27cb-436b-9cf6-bc86dd768713 CLINVAR:407482 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bac6fc57-0615-44e8-aae0-7fc481cb269d CLINVAR:141721 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86034f46-454b-45bd-ae49-0557b2cc6259 CLINVAR:141721 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6e1233e-bfde-42ef-a458-309e82ec343a CLINVAR:142187 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2521b9d1-16df-4a7f-b302-890bb0c5739a CLINVAR:142187 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7d5f936-f104-473b-b1a5-b321315f161a CLINVAR:189104 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ae4cda1-868c-4259-8d11-4802d5cd259b CLINVAR:189104 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce90116f-1456-4cd1-94b9-c5149250f880 CLINVAR:233553 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5f06c70-d3b9-40a1-a17b-fa421201568b CLINVAR:233553 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e9e51fb-9615-4d46-b6b3-be76ed978605 CLINVAR:420368 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78b5ac7f-0f0f-4132-bb01-b7bf4942ccaa CLINVAR:420368 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cfdc550-8b20-4e7a-90d2-f6c5b9931a9b CLINVAR:140889 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f9913a71-4456-460a-b170-5b19bddcfdeb CLINVAR:140889 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a3eba45-4143-4e9c-a9a6-bfcb07ed02e4 CLINVAR:3035 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bd9fcd4a-71a5-4cfb-bcba-9dff7da66523 CLINVAR:3035 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83bf4f95-8915-4354-bc91-f405671be345 CLINVAR:186242 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93287a4c-76c3-43be-963e-cc97a0c4d2e4 CLINVAR:186242 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a83afb4a-377b-4b4b-912d-3d68da6acd42 CLINVAR:3021 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7264e4d9-aa67-469f-8f6b-8367b427b45a CLINVAR:3021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ef9f717-6f66-4cf6-8337-e6cc58cc2ce8 CLINVAR:216024 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb0231a8-8634-4585-88fe-0f8813cc6626 CLINVAR:216024 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be1f840-6cbb-4ca0-a1b0-142baffde95d CLINVAR:417621 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8a33d47-d10e-4f2d-8b80-bc028068ac8c CLINVAR:417621 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9805841-02bf-4a10-ba5d-4ff3e1ef3ab9 CLINVAR:221124 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f919462-8f0d-4231-8828-196553866f09 CLINVAR:221124 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27286b8a-4e29-4a9a-975f-4441c9c5f5c2 CLINVAR:127374 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a22670e6-fa22-495d-9b25-05aee25c05e8 CLINVAR:127374 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2868d04-f2e0-4419-94a1-6aab02c5cd1e CAID:CA915940463 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57f5a56d-14cd-4d36-b26e-aef1462de572 CAID:CA915940463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4773339f-45c3-4ba1-bdab-659e7447fca9 CAID:CA414914388 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32050650-e21b-4dbb-9122-0766876f8018 CAID:CA414914388 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d595227b-4268-40d0-a1d9-3566f48a92a4 CLINVAR:2123722 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2668479c-24e5-4a04-85f1-22f24aa0be45 CLINVAR:2123722 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 204579b8-21e0-469c-8b9d-88ee3321d2c5 CLINVAR:2420457 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 929e8d95-1dde-49ae-a5f8-e8d338379de8 CLINVAR:2420457 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f806af0-c817-42e8-91dd-1eafbb417bb8 CLINVAR:3343122 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a5014c0f-c0b1-47b7-8822-9319caa6eef4 CLINVAR:3343122 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbfef439-ca30-47d8-b563-2490b3f68852 CLINVAR:3351124 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dae7c86-c282-4d69-a8c4-b23f09b2d746 CLINVAR:3351124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7600b103-ebdd-4852-a34b-d72edba0f931 CLINVAR:897696 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 66b893b0-a1af-474a-8119-85039e1c32db CLINVAR:897696 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc7f0a0f-5cdc-4586-b481-0de83f9406d8 CLINVAR:2851140 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0182a822-f174-44bf-aee1-9383283a5e95 CLINVAR:2851140 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a87ba62-2db6-4311-9b00-52b433bc9333 CLINVAR:3067798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 370e3ec9-2328-49f2-af53-b7d528bb81fc CLINVAR:3067798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bb48653-8ab2-42e5-8b6e-a4f32d251d4f CLINVAR:2631353 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0d9da3af-e4af-4b64-ad64-5977efeed8c8 CLINVAR:2631353 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c9f8555-08de-4a96-8ff5-4e1aea327317 CLINVAR:2844927 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea5b0f08-f65a-47ad-b23f-bd0c14641105 CLINVAR:2844927 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e938c742-0f86-4070-bc43-b446578c14bb CLINVAR:1299484 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96604a10-0429-4cfd-9856-879bedbaa783 CLINVAR:1299484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5ea92c7-5991-4eaf-84a3-f9c40bdaf74c CLINVAR:2501756 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42e07579-5dfe-4159-bb3a-1ba0e1883b8b CLINVAR:2501756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99d774e1-15ce-4596-a3d3-aa671e1485db CLINVAR:2799017 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 66b2a56c-e9cc-4ee8-a5aa-7a2f8b4d84e7 CLINVAR:2799017 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cf21c05-1b11-4276-9ff7-1869671628b4 CLINVAR:2852907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f3fa4e4-781c-433e-9ca2-c4daf6316778 CLINVAR:2852907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6dcfd68-0e00-4573-8e6e-75b860f04606 CLINVAR:2997653 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9eca4e73-bf11-44f1-aaa3-7c382143b064 CLINVAR:2997653 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59afc15d-63a1-4257-ab07-cff570b5002b CLINVAR:3240390 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8d8fc49-8faa-4afe-a242-458402df18a6 CLINVAR:3240390 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7b7c62a-8a26-422b-8f62-d34b9b52bf9e CLINVAR:2717092 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cd83d01-29d7-43fd-b224-e7e0eb27cd98 CLINVAR:2717092 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4721b30-f5d6-4723-9f34-b8232096a308 CLINVAR:2632141 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b131f4e4-19bb-44b0-ada4-5e3d975a15f7 CLINVAR:2632141 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12e4de4a-cd5b-44a5-9634-134d517daa6c CLINVAR:3370501 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d37ebfe4-3f0c-4d8a-a69e-dd46722cf7db CLINVAR:3370501 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43cdf5f3-e96f-473b-b717-cd1496b4d977 CLINVAR:1016211 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5061d8cc-04e4-4064-a4a0-01ea6dfab9fa CLINVAR:1016211 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34961375-7002-4ac7-baca-ddb8ad8d9111 CLINVAR:1512844 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0fe6be87-b58c-4ed6-b553-92add36446e1 CLINVAR:1512844 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1c81fdc-a31a-4c31-be0b-d22663424be7 CLINVAR:1412137 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3449314f-7448-41ba-b4e4-25a20eacd077 CLINVAR:1412137 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74d24a08-2bfb-458e-906a-e07b83e725b7 CLINVAR:1494340 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c34e4fb-9612-48e8-b0b6-1b5ccc290342 CLINVAR:1494340 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72f6f2ee-552b-40ef-96ff-c02e8d855063 CLINVAR:964573 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08aa1198-9bcd-4e84-9c59-db00f56137cc CLINVAR:964573 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b117b61a-fcfc-4f01-b210-781c558b737d CLINVAR:1042591 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33c6bcd4-96a8-4ef8-a7c7-74e8cfe05969 CLINVAR:1042591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbecc59e-8587-409d-8165-5dc140d7433e CLINVAR:1055781 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b21ed885-0985-4de7-ac88-ecc39e5f82f2 CLINVAR:1055781 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2047902d-1d4c-44e0-acd2-613bfb840788 CLINVAR:2096033 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7158f0bf-5ee2-46d4-a9d9-5a2aedaa8e92 CLINVAR:2096033 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a3f2d87-3e92-4bb5-a143-cd51a83f0fe3 CLINVAR:1491076 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d726da82-5e0a-4ae9-a4c4-d6b74dcf1ea6 CLINVAR:1491076 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72cd3842-0a97-4841-ac4e-73fb554b0611 CLINVAR:2758444 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a4d77c3-6973-4d4c-adfd-7c464c00dc89 CLINVAR:2758444 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8dfd02f-fd4c-4011-8384-4edd7dc5e123 CLINVAR:1515908 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b1d3448-ffc6-413d-b32a-4328b7d9ff3c CLINVAR:1515908 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ded6b5d-54e3-47c1-9349-fe994f5423ec CLINVAR:2860395 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38a82e48-7a39-4887-b581-be7b1ebfdd93 CLINVAR:2860395 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30acd4f2-076b-4681-8320-417ebf2bebc4 CLINVAR:2792019 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 53684e44-3a7b-4273-b00d-0a5d0b27c225 CLINVAR:2792019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7de41ff-cf25-4d02-9d2a-85c045fe5c42 CLINVAR:2765874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab57310f-3c4a-452b-9390-48d3dd8a53d5 CLINVAR:2765874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c55199e-0234-43b1-861b-a4c6a7ff5c14 CLINVAR:339840 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 355befd5-dc8e-4978-9296-b629e326b271 CLINVAR:339840 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb88fcb1-bae3-4742-ae1b-acbe33cc96e5 CLINVAR:3240387 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f0785cf-91ae-4fe2-b639-d8b7632675cc CLINVAR:3240387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31485f29-7f0c-4fde-81d6-7f6114214002 CLINVAR:1063856 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c18f518-1715-4cb9-9f7c-0878f4b3ffef CLINVAR:1063856 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f28941e1-5958-41c2-afd6-3cb74f3fe982 CLINVAR:898791 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44750006-c5a8-4869-abac-98fb507cb729 CLINVAR:898791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c205d60a-4fc5-42a8-8a2b-251b73193b7b CLINVAR:896106 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8475b0ed-c60f-4806-9eef-25fda31c10a0 CLINVAR:896106 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65a5ef24-1f5f-46b9-bb35-091f2fbdf50f CLINVAR:2783241 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f082fd4-5257-4832-9347-f7c935179a6e CLINVAR:2783241 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a194f796-7b2c-44f7-921d-b4217baf4a75 CLINVAR:895824 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3a22e4d9-6532-4577-bd07-1574998fc80a CLINVAR:895824 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83076587-cc67-4489-a4ee-d5d869710dde CLINVAR:339836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6633ebee-9d7c-4f74-8e78-0e6f27a2c1bd CLINVAR:339836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80f5d2a9-c33f-4c38-92b7-4869a580104d CLINVAR:1701963 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 675df3f1-2f59-4845-bc7c-be8107aff2fa CLINVAR:1701963 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbf252aa-9d3f-43e0-b082-b4573621efec CLINVAR:896107 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81adf17b-4bc9-40ad-ac34-b7af83804b8b CLINVAR:896107 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90284edb-0ae5-4f7c-8478-a5d9d5ddfddb CLINVAR:895756 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea96a431-eead-4d6d-8857-1a93fa7e2f97 CLINVAR:895756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 003b3d43-f91e-4235-8eb9-670f26bd7139 CLINVAR:339826 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 074585ba-b5d0-469e-a1dd-235810fab663 CLINVAR:339826 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f18fae5-50a3-46f4-ad27-3e4481b13421 CLINVAR:2752645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1acb59d-a179-46a9-8d12-1bb679c75ae9 CLINVAR:2752645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 534c8bf6-ee50-4940-906b-7ae83620e29f CLINVAR:2915634 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b58b2423-0cb6-4946-8bc9-518e919a0254 CLINVAR:2915634 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fffa0b95-f01b-4980-ab4e-a42b34fbd09b CLINVAR:1002392 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f30c47d-bf67-4463-954f-7dae68e869b8 CLINVAR:1002392 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2058608-67f9-4496-a2de-dc512bd691d5 CLINVAR:2750603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9be0c5b9-862f-4874-a3ab-150d18278978 CLINVAR:2750603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd96c609-5c2b-4eff-8dbd-d564598b472c CLINVAR:962238 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85db6209-c697-40a3-9a36-d859a5b34a80 CLINVAR:962238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 335c5c36-0628-4825-a462-6114e1f38365 CLINVAR:1002692 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6b6daf1d-6ad9-40d8-a349-49b3f8e7268f CLINVAR:1002692 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 486ccb6d-cb6f-4048-8499-7f1b36ceda67 CLINVAR:2715219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95356c61-0746-46f1-9bd1-bc5d827beda9 CLINVAR:2715219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d7c02e7-6e75-4871-904b-3c0f0c1fce33 CLINVAR:1433502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15687b6b-06ab-4c25-9ce7-a3175bfce824 CLINVAR:1433502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45c9c2bf-cd6f-4338-b878-b396206b95de CLINVAR:2887997 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 045dedc2-9b88-4097-93fc-3a6460645f1d CLINVAR:2887997 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 026fb95d-3e87-467d-8126-c911d8a8ca68 CLINVAR:2810497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc8571a1-0071-4b76-9463-19aee0c9c879 CLINVAR:2810497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aef950f-9a41-4e6d-b60c-4228799e736b CLINVAR:2965488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dac70412-b9b4-438f-b004-53ea54963485 CLINVAR:2965488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d996f28d-a2a6-4b5b-b2b0-e2c8488b8d16 CLINVAR:2738452 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2256ca7e-5708-4a44-b953-5b3d215b507e CLINVAR:2738452 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f25497a3-857c-42b7-8708-3def3e797305 CLINVAR:962783 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7fb99393-6a93-4b90-b40f-c5ba94a97d16 CLINVAR:962783 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a3aaaaa-1fac-4f30-963a-00ee701d3384 CLINVAR:2397690 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0260d9e5-31b0-4f45-b0cb-cc5827eb8da5 CLINVAR:2397690 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d74fb96-d4b2-4823-adab-b5201f7c6fa2 CLINVAR:1018236 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28d64f59-42f3-49f3-8daa-1b5a81ddcb48 CLINVAR:1018236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c320974d-f8fd-4c85-952a-f20c937bc7dc CLINVAR:2113692 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb690af4-6570-4197-88de-a476019c66f7 CLINVAR:2113692 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bea4dfd9-2acb-44bf-92be-4da83ad993a0 CLINVAR:1036138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50c091f5-6f3e-4ef3-8e8a-855452330ad3 CLINVAR:1036138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f269ba8c-d59e-4b34-b809-5e3024119070 CLINVAR:2067605 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d44b6e4-4c90-4c33-af78-3724bfc36336 CLINVAR:2067605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25ab7497-1988-4123-916b-57e151e01864 CLINVAR:1019366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a8812949-ccb7-44cd-8155-22778f4df92c CLINVAR:1019366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f57359d-0532-4f47-a8d0-334e51760a3e CLINVAR:944258 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e294a6a-76e7-4767-84a9-642e89440257 CLINVAR:944258 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73954c5a-bc40-4483-9220-b613d2dcc557 CLINVAR:3240393 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d3a29d83-b0b0-479c-82a0-a7ba2566b862 CLINVAR:3240393 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfa5dd87-9d07-4f86-ae7b-6f7bd54b9eb7 CLINVAR:1056713 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8722b9a3-ad44-4f90-8ea8-3185c4e0e588 CLINVAR:1056713 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a69c0e1-6f30-43ae-bf3e-29fbba9de5d6 CLINVAR:1635761 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1486309b-1253-473a-a5d8-7b1c58883547 CLINVAR:1635761 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ee1ff9f-070f-4cbe-ac7d-dca1a0135961 CLINVAR:3240388 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da765a5a-54b6-4c96-a9f2-0ea73d660919 CLINVAR:3240388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e15f924-f406-45d7-9d0f-bf2fdf5c3098 CLINVAR:2770886 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 843fe31b-ff4d-4eb5-800b-dbf54202e9d3 CLINVAR:2770886 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba25001f-7376-4c64-8f63-24da83853a12 CLINVAR:1010308 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6b1c930-1d44-4912-a21d-fc3fa02d0537 CLINVAR:1010308 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c16bf1df-4b2c-492b-b208-e43b15841c7f CLINVAR:2850038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 340be629-e5cb-4595-b2cd-9a4cac45845c CLINVAR:2850038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dd90c2e-968c-43e3-9ad6-01390f1e003b CLINVAR:2823312 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02c06dbf-4e08-4158-a44e-2993d24e7284 CLINVAR:2823312 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a7b77fa-5e08-4fa7-b32a-ccab920c57c1 CLINVAR:1037280 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ede2c35-898d-48d7-b201-eeeae9438232 CLINVAR:1037280 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 834b1f40-e81b-4605-9862-52120079a0ae CLINVAR:2714614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0745cbf-946c-45d3-884c-05c553c16caf CLINVAR:2714614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00c9c102-d683-4b1c-acb2-3354ecdde7b2 CLINVAR:850021 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fd84b69-b62b-419a-8bec-35d10c74f213 CLINVAR:850021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b1bace0-680a-43c2-bfd5-3edb301d958f CLINVAR:2805569 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d7b1a1e-74cc-4a65-a7ea-6a57e3a15c24 CLINVAR:2805569 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17ba6c6c-2faa-4a48-9e0a-3a0023d592aa CLINVAR:1004142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aefdf059-6f06-4f9d-812d-18cd4781b273 CLINVAR:1004142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f5adb76-126d-4163-bde5-341fa9a849a0 CLINVAR:1043154 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98e8cbe3-0d67-453f-94af-e9fc55e437dc CLINVAR:1043154 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2a233de-4f63-4de5-985d-9468816708b7 CLINVAR:1996609 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcc89271-7a66-430a-8f83-4df2da4fa3a3 CLINVAR:1996609 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8fefa73-c701-422d-8e9f-5ac7706fed77 CLINVAR:1039682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1d2802c-dc18-44bf-9937-f67b39cec66f CLINVAR:1039682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6b89e18-5c07-4e32-a2bb-a5b820df6427 CLINVAR:2996309 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6aa946d7-fb5b-4669-a51a-7658f063d728 CLINVAR:2996309 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8851b31-9b2a-4cc2-b03a-783670f6c8a0 CLINVAR:2717142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54a6f659-8041-4158-869e-f18160b23795 CLINVAR:2717142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cad33d27-adb7-4df3-b43d-db6999341b55 CLINVAR:2717108 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c97106d-7fee-45e8-9905-e7801e1a8d91 CLINVAR:2717108 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f70eb906-20db-48b7-b63a-f718945c8ee4 CLINVAR:2678497 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9879436f-f0e7-4b02-9637-f965f50868b2 CLINVAR:2678497 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a99c6a8-a7e9-4bbe-b156-22a72fad04e9 CLINVAR:1945048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4753a34-f12c-4e3d-afdb-23b6b9532811 CLINVAR:1945048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bab4941-e317-4695-872a-b7cc0ed1a1bb CLINVAR:2822749 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1a0b5bc-ba65-474f-bd7b-3b4ee5227937 CLINVAR:2822749 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c8462b5-0ccc-4fd3-bb75-17d95810e910 CLINVAR:936854 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bbe4f3fb-da77-4710-ac60-a22c1c44e43c CLINVAR:936854 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74d5ba32-5786-4b0a-aadb-80eb8bf81caf CLINVAR:2863363 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28066817-337d-4418-93db-ab7054507c91 CLINVAR:2863363 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 782e3728-d7fc-450e-acf7-41aa5d7987c7 CLINVAR:2091961 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 38a7992d-b9fb-408d-abca-286992b44f8f CLINVAR:2091961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf9ae63-4600-470e-9b5b-974e2bd124a5 CLINVAR:2866349 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f71e439-c80f-429c-a4f0-5e22f0ffee80 CLINVAR:2866349 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86fe0ad6-f7d5-4ecf-a84b-2fb7e3cff716 CLINVAR:2718922 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0700e06-b3a6-43d1-bc52-12673a49fe92 CLINVAR:2718922 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68842d57-1f8c-4e93-a6f4-0e7d7c8afccb CLINVAR:2912549 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29ccf979-9288-4b3a-8e31-03496bdcbe7c CLINVAR:2912549 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7da33dcf-ee97-47f3-819d-76bc3e84279e CLINVAR:2799969 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e9ea1a0-997e-44d4-b10e-a1a89aa4aa7e CLINVAR:2799969 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2092ac20-a94e-4f09-8ea3-400af3f2d3b8 CLINVAR:2995907 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c949aaa8-ccd8-4fed-8ef0-a9af2057acec CLINVAR:2995907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2360b6b6-e9cc-4273-adc5-4b96f70d3371 CLINVAR:855262 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8b5c313-c01b-467e-a01b-4046e176ce4f CLINVAR:855262 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c82c2fa-033b-40c5-a958-47084cecbc2e CLINVAR:1508015 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dd1b5e0-458d-4a59-b5c2-c5b425dae76e CLINVAR:1508015 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4637e200-e97b-44dd-a700-4696d09af937 CLINVAR:464010 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2146004a-fd13-49ce-bb5c-ff986c6c6902 CLINVAR:464010 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afb43ff6-fa8c-4027-a911-201a3eca3ae1 CLINVAR:463978 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 876bc3b6-94c7-4a8d-a017-16a3e23afcd0 CLINVAR:463978 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baff9578-d28f-4559-ad82-8211f1f02553 CLINVAR:2201687 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a653fb7d-8231-4cc3-92dd-7ae5fa47546d CLINVAR:2201687 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35d572e0-0ef6-42c8-a4d1-39a3d97a976a CLINVAR:2198524 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3856cc16-c7ad-46ce-a688-50047cf2645a CLINVAR:2198524 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45242f5c-4d93-43c0-a149-1c3daa2b8598 CLINVAR:2163488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 379a7801-adbd-48b5-9a8f-a1d9c581b399 CLINVAR:2163488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc26eb34-cb84-4ba2-8dca-e95581ba3273 CLINVAR:2161020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3653f5fe-0873-4ea6-9b29-1c2149d1063b CLINVAR:2161020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 786a3956-0e7a-4875-b9c9-beb6e3113c90 CLINVAR:2156664 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44eac74c-181d-4b64-a05f-09e7c715d87f CLINVAR:2156664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d59fa023-508d-4301-b594-3becca001523 CLINVAR:2834944 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cae41833-f5a7-40f1-8f77-fae289f6a3f8 CLINVAR:2834944 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 708f3d3b-e74a-47c4-a1ed-ab70d4037332 CLINVAR:898914 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0a5009a-c6ba-4947-9789-8251d2629d56 CLINVAR:898914 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 493a1d37-7394-48b8-835b-17ea45aa8c33 CLINVAR:1479269 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d6ca9ec-be51-42ac-b10b-ee27d929cb19 CLINVAR:1479269 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aea483df-9546-4253-b0ff-a9fc1c7495a5 CLINVAR:1025603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca0d1194-b8c6-4106-afcd-4aea3a039d7d CLINVAR:1025603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23b24657-0261-4030-82f0-fa30aa42151b CLINVAR:2099170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 959bdd79-3aec-4f1f-b99b-8bd2d2b7d5f0 CLINVAR:2099170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d8335df-023f-465d-869f-7a0bad165f4e CAID:CA410202527 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 71203e79-ecbf-4aa4-a5f2-2b0c0b93cf8d CAID:CA410202527 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da61cc1a-c844-4bc8-96a0-1da407a0863d CLINVAR:2268033 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e5b877ae-910a-44a1-8690-214fe7c9e82a CLINVAR:2268033 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a548d42d-d07c-43e6-82ec-1d055a6dd1f6 CLINVAR:1547462 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2c76a55-755b-4adf-bbb2-bf8a2d2035f0 CLINVAR:1547462 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6977b98b-f849-43af-a120-2d014584bbce CLINVAR:2761026 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5aadc675-b117-4e17-bb66-ab42c9d1d925 CLINVAR:2761026 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d04abd0f-a840-4428-ac35-17aee84052df CLINVAR:2805962 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da195387-b93b-40b7-855a-95c113346109 CLINVAR:2805962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df065f9-59eb-4424-813a-47407efa350c CLINVAR:2769230 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 920e4e96-a027-4814-81b5-ffffb4a5baf0 CLINVAR:2769230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17ef203e-a556-4e25-93fa-0979088c452e CLINVAR:2633656 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4bde22ac-0c53-4898-9a9e-8c12b5258751 CLINVAR:2633656 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ce3b333-770a-42ac-84b9-10ab1109abda CLINVAR:2443682 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09400454-5477-4092-9463-51df61f079e1 CLINVAR:2443682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41dbb3aa-8357-4353-8e00-4133df98a83a CLINVAR:2108059 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72684977-ee2a-4454-941c-739ba0361dea CLINVAR:2108059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcb04029-9997-4612-bbe4-c6231b739396 CLINVAR:2580053 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f46ede9-bc0c-43f4-a024-0d36d89104c8 CLINVAR:2580053 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87d3fc14-9cdf-4a0d-bd6e-c3daa871d6f7 CLINVAR:3068220 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 160a1b1b-2ba5-4998-a417-77374183ab6f CLINVAR:3068220 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9318d389-9021-41b2-87ea-ffe06199fab2 CLINVAR:2628467 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f05069f-2804-4862-8632-9e4c086af884 CLINVAR:2628467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 110ceb3c-d7d8-4f96-a103-c810e810e30b CLINVAR:2910839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b3b91ac-e6fe-4347-b962-fe7f8d9bf06c CLINVAR:2910839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42f07c0c-376d-4c5a-a8eb-ccbdb1f79210 CLINVAR:1040026 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9bdcd88-8e32-4a17-bf23-3fd6db136eea CLINVAR:1040026 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5eea084-b6cc-472d-83e5-4b33d1502db3 CLINVAR:2126813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b2305707-c1d9-45ad-a4ec-978fcb65abf3 CLINVAR:2126813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1c84d26-72d3-4ea0-b19e-4896349860c2 CLINVAR:409808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b18cd910-930b-46e5-a0a7-c58b8313401f CLINVAR:409808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e8ebde1-f6a6-4118-8224-ae8121b762d7 CLINVAR:1012104 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 050a2b1e-7dba-4c80-9438-eadd1cc65116 CLINVAR:1012104 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d0e3ac7-0e1b-45e4-8360-bb9399a75cfb CLINVAR:1466051 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d601446-8189-4101-8cfe-ffb1712cdba4 CLINVAR:1466051 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74140656-3f9c-4aa5-b508-64e6e439b7ff CLINVAR:856798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32d17c68-de98-419f-9058-bd986de6c6f1 CLINVAR:856798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0bbd1da-ccf2-4620-8fbd-49f3e7647c47 CLINVAR:1684391 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39dd0960-784a-4d2b-821e-47aa656bdcd4 CLINVAR:1684391 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0142af20-2ec7-4134-aa22-89cb49991617 CLINVAR:2091067 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72542495-8284-4710-82a8-25de14ed56a7 CLINVAR:2091067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b258e501-1519-4771-bdae-376ea3b79db1 CLINVAR:1439261 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d3e2820-d2ef-4d95-8e17-7a8326bda2a8 CLINVAR:1439261 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7ec5631-575c-43ce-9d98-13173eefecfc CLINVAR:2678492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04d9a9a9-a37f-420e-bb9d-e33edc248def CLINVAR:2678492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d05cefa-eb50-4aa3-bdcc-a75fb7baba8b CLINVAR:2023119 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d76eadc1-3b82-4abe-8a27-906e1868f25a CLINVAR:2023119 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a75842db-89b6-4e94-9313-c1c7a2042d04 CLINVAR:2767710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1baf7d5-a2bd-4729-8c1a-1ba415effc2c CLINVAR:2767710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2bd8855-5aa4-4252-90ec-968f42f5d1cf CAID:CA410148836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8555ce6-99c9-4b6f-ad68-10c2ed354acd CAID:CA410148836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6583a6ae-9ba3-432d-9814-8e031a55e590 CLINVAR:2697219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c143c15-a2e1-4223-b55b-5d2337e88c71 CLINVAR:2697219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f508398c-ed9d-49d6-b776-3514816995ba CLINVAR:440678 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c076d738-3606-4eb9-8fc5-a72da75d820c CLINVAR:440678 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 111ed319-0a4e-4474-acd7-b6f1acaad491 CLINVAR:252213 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5312480b-7a90-4fdf-b856-3e524778f4fd CLINVAR:252213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9728d08e-3153-456f-836d-9a80575cda52 CLINVAR:375833 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b12327d-5e8d-4d4a-8eb5-8d4070361cfa CLINVAR:375833 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f81456c-63fa-4e2d-ba52-2ae310485492 CLINVAR:183132 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6fa0bf44-eda2-4f55-a1e6-c1644693bb5f CLINVAR:183132 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e91ad991-1e0c-4f01-93b0-805f9c4ace12 CLINVAR:250960 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2e97db3c-223e-42bc-8f23-93f1753113cf CLINVAR:250960 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d11ff4c-ab3c-48c1-86f7-0605d4bc7f5d CLINVAR:440624 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d80fc2a-144d-45be-b797-34b0ddd7424d CLINVAR:440624 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89a9fb42-e364-4879-8d8b-9c747176f4d3 CLINVAR:523715 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4348c861-58ab-4ebc-9754-18b1b202fd24 CLINVAR:523715 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5df3c4a4-f61a-4c8d-a380-8217f25e1774 CLINVAR:251853 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb16c0e0-178a-4133-b33f-1a5eeaea7d45 CLINVAR:251853 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad824c6-ddcf-40f7-97bc-7431bb2465ca CLINVAR:251852 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59214868-93d5-4d3e-baa2-a0be582f91d3 CLINVAR:251852 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a63385b-da46-46a6-afb3-8976adbe2bf5 CLINVAR:252269 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d903edf8-6701-41ab-9b3d-1f71b2dac81a CLINVAR:252269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 999e4ae2-4cfe-4651-be9a-2205c24686ae CLINVAR:252267 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 55f725b7-366b-4996-a90d-8ce6dbf92d8f CLINVAR:252267 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4295899e-fc03-4587-86d8-ef486d93b794 CLINVAR:68099 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b224a575-04ff-4c99-b600-50249bc13cab CLINVAR:68099 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ca5070f-f117-4118-aa33-35640dd5991e CLINVAR:251037 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecaca54e-6eca-4fbf-a645-21c653c6928a CLINVAR:251037 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1135b2e-4a38-4e30-ba81-0092243ecd14 CLINVAR:425706 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b573a7d1-30d0-4467-a66c-c70f230e7903 CLINVAR:425706 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77ad0262-b1e1-458e-b39d-3d6437eac5f5 CLINVAR:425707 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d730cb77-084d-40b5-bf9a-4efaab4185ba CLINVAR:425707 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f66f2aa8-3342-4b70-acb3-9b25fcab0c88 CLINVAR:425906 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90694827-591c-4642-b11c-02fa59dc1aa9 CLINVAR:425906 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0167b42e-624e-40a6-a5ce-5dbd53b1467c CLINVAR:933084 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03a1e910-fbe6-4f76-a6be-b602804226f4 CLINVAR:933084 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77bb0c5-3a7e-4ec6-b932-2dcd82a524f9 CLINVAR:412136 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b40edd00-1aad-43cb-8288-4f5659bca4b1 CLINVAR:412136 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c04c07fb-767f-4505-8166-88942ff9ec55 CLINVAR:937744 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61e25988-64b1-4f4f-8024-e0894e2621ca CLINVAR:937744 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c55e51a1-453b-4702-9a71-9e85a8bca645 CLINVAR:479637 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dde9857-9274-4ff2-bd43-63cb4bf9b5b6 CLINVAR:479637 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0be7b3c-3547-4634-a55c-65bfd508fa98 CLINVAR:479642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63353a80-55ab-4bd6-8503-dc3271485529 CLINVAR:479642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 760f8967-416c-4da9-ba16-2ef92b50cf18 CLINVAR:854954 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cf82d53d-e018-45cd-8f86-5d71464e88ed CLINVAR:854954 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a92ac2f-62b0-4808-8987-a141aa65df98 CLINVAR:92270 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e652f74-ff69-4f09-9f76-a78033168094 CLINVAR:92270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ef5349e-2a3b-423c-82a4-1f1f965c0ecd CLINVAR:1336989 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60027235-8b18-4d83-b18f-216c013e21e8 CLINVAR:1336989 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dd2b0b1-7b44-42f5-af2b-64f048d9d6b7 CAID:CA409108333 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45144bb0-aa95-4284-8f25-b0ecebb2e528 CAID:CA409108333 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90da1ec6-426e-44ea-afac-9d4d0ea2e46c CAID:CA409108330 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a7eb554f-fc9c-467c-85d8-1c1f757f305d CAID:CA409108330 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ac660c1-d56c-4e06-92d7-c526b6e10867 CAID:CA409108715 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49e5e5b0-b2db-4226-ab8e-d1dab94897f9 CAID:CA409108715 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b1d92c9-6aa0-4f8f-9a30-69fe65e431bf CLINVAR:1700658 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4937c0a3-72f8-4c9c-9403-26ebc798fe65 CLINVAR:1700658 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b563c8-c21a-4b58-9a0d-da84304a8bdb CLINVAR:338422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dacf4cb5-3e37-4cb6-98e3-22e768c262a1 CLINVAR:338422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c443b10-c77c-41f5-bc7d-461fb0aaed87 CLINVAR:447519 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 271e479c-0810-41a3-a3fc-4284cb59c989 CLINVAR:447519 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55c15ce8-bb27-4db0-af44-1c68f243cc89 CAID:CA409108257 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d86389ff-0dd7-4b33-a835-60beeb647525 CAID:CA409108257 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a546e480-5280-49a9-9f3a-b3a59a81c3dd CAID:CA409107449 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b11d9168-d0fb-477b-9bad-d7bf78909e2f CAID:CA409107449 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46310536-a2e3-44ed-b328-8a31ccf9c63d CAID:CA367400147 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d0b7362-9825-4d58-af6f-0636794e9056 CAID:CA367400147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec18c3dd-07d1-4a51-9d0a-a467180e8fc2 CAID:CA367399714 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 87eebc83-b691-4148-bfaf-2f47681189bb CAID:CA367399714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0f04963-be48-444c-9b1b-390f0ca303c2 CLINVAR:585929 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a015b09-1be0-48a3-9a7d-5c1e86984371 CLINVAR:585929 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dfc3929-e72a-4aae-af19-d13feb5d9cad CAID:CA2695202957 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c13e20e0-c409-4669-b49a-897f1c058528 CAID:CA2695202957 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36317673-7a66-4003-9286-9963b5d03b35 CLINVAR:3602130 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4468c2c5-92c3-4138-bcee-00d64efa0d45 CLINVAR:3602130 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ab99533-0390-4fc3-9962-194dfcfa5b37 CAID:CA367401330 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b3ba3f0-9a98-4e2d-8091-87115193f86b CAID:CA367401330 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b91216f-2340-4837-b291-3c28f8dc2e45 CAID:CA367401332 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 621026bb-1fb2-489d-9d48-00245f9f4a5e CAID:CA367401332 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec968890-c476-4696-af64-86e849f171a6 CAID:CA367401327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c1ac3ac-2355-4465-bc97-4312e322c3b5 CAID:CA367401327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d707aca-46aa-4faf-a483-b986c7f3997f CAID:CA386960233 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca17c48d-f797-4a25-829d-86edf7a45145 CAID:CA386960233 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b8c6175-0584-4894-9bc8-43a2f70b1d0a CLINVAR:1317657 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5288ee0-726b-4fed-b0fc-7cf51de6c92b CLINVAR:1317657 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee299077-73e5-4c31-8e99-10e5ebc881fe CLINVAR:1807441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6990daf-e07a-49a8-9138-4ccd0b020618 CLINVAR:1807441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e8310af-54bb-4dcd-8392-1f0191d56601 CAID:CA386960365 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18b60810-8cee-4f45-a4af-be51a582c396 CAID:CA386960365 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f87202ca-e351-4c11-916d-426a6580f91b CLINVAR:1338456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33c43f48-3e4f-4478-aeae-4ce77ffba204 CLINVAR:1338456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af769cc5-eb21-439e-95a5-bf1782f0dd90 CAID:CA386960575 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1704ae2f-3a45-4e9e-b003-9aff9d94bb9f CAID:CA386960575 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8900171-4af8-4cb7-bd40-acb4a40dd140 CAID:CA2580612112 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d26d25e7-fb08-4790-a904-32c41c3409ea CAID:CA2580612112 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70653d30-5dcc-41aa-978b-cac5f8c818e6 CAID:CA386958912 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3ae1b6e-0ad9-4aec-9c68-a01401a4e009 CAID:CA386958912 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b608d5de-de78-4dad-b21b-16fd9c42495f CAID:CA2580612109 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a621653-4d39-42c5-8fb8-0e948ee78adb CAID:CA2580612109 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3834db49-6552-4b22-80aa-e48760b20209 CLINVAR:586791 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c498997-50d4-4e29-975f-7549c18d0180 CLINVAR:586791 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75fb9c32-81fe-4bec-ac21-af3d95dac554 CLINVAR:92301 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0483a810-920e-48c9-92d8-e267df73789d CLINVAR:92301 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e43973a-431e-46e0-9fea-f40f01371c90 CAID:CA347215735 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb1f7a96-40a6-4f98-8358-f701decb2a43 CAID:CA347215735 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aa41c6c-ad3a-4aee-8c5f-12024af968c9 CLINVAR:596790 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4384838f-46e2-4197-aca7-f961f8e50c22 CLINVAR:596790 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 791c33d6-ae67-4b0e-9ce0-73fa89f74ac4 CLINVAR:98582 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 791ba2fb-384c-4207-a779-ba2c81cdfdda CLINVAR:98582 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c69b11-4e82-4d42-b7d4-769e3b7f1d2d CLINVAR:98610 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6fd6fe1a-8d39-4ec9-89cb-8448ca4dff3a CLINVAR:98610 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dcc312d-9d6f-445f-9208-b8fa4ff7940f CLINVAR:560463 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 671d62ed-7d4b-42b6-be83-f54d62c0a32a CLINVAR:560463 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02eef949-1da7-4be7-becc-59675f1b78ef CLINVAR:2137915 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a605cab-6ef8-4d3f-ab56-b045d1e76a06 CLINVAR:2137915 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd9df89f-2578-4ecc-b012-b17eba72eaa9 CLINVAR:423435 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a6ec97c7-d5f9-414b-9373-d4e57cade2f1 CLINVAR:423435 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63aea5f3-2574-4df5-84e1-66ab60a11b85 CLINVAR:859216 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen feb60c1b-d150-4acb-86f6-707fa4df0527 CLINVAR:859216 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb4dea70-c80f-46b4-8579-b8bba0351b3d CLINVAR:1001416 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2299e77-27c7-42b8-bf29-c8bd42adf2d3 CLINVAR:1001416 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a647ca71-bfff-41c5-97bb-02d79e8aacfa CLINVAR:198055 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b29c9c2-c69e-4912-aaa1-ce7a4569e159 CLINVAR:198055 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fede738-2b4b-472a-bc32-3094b0fcf3d5 CLINVAR:803314 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 691f4fd5-7569-4f71-8c1a-d47ed5d49db1 CLINVAR:803314 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 289390c3-897f-4313-ac06-43c98c166921 CLINVAR:98546 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49c08074-0b26-43f0-800e-e553cd688753 CLINVAR:98546 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2521c084-6da4-40e0-87fb-1335d93cb622 CLINVAR:98555 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00c3bdd3-8bb1-4568-b2fe-3c2adbc605e2 CLINVAR:98555 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dab04ca-6237-4c40-9011-f3f0f6d1b732 CLINVAR:974639 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74d1415d-71b7-4290-b600-7fe6360417be CLINVAR:974639 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb514e1a-3ea5-4e84-8f94-27501027e7b9 CLINVAR:98611 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 82722019-3d46-4d7d-a360-44448dd7dcdf CLINVAR:98611 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e92b8398-8f19-485d-96d8-eb08207f644b CLINVAR:1445009 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6830f482-994d-4907-b623-6c521e9e138b CLINVAR:1445009 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28414c57-ea47-463f-9fb1-a75e1f6704f7 CLINVAR:98584 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ece8370-7694-4c1f-86ad-fe3ff8f120cd CLINVAR:98584 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2949de4f-6ad8-4a76-8327-0c41d3b54df8 CLINVAR:974655 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fe7c81f-3060-4ee5-9c15-f5a511b74292 CLINVAR:974655 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e7ee1a8-c1e0-4427-94de-51b40b269b98 CLINVAR:98590 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef0c5376-087a-4778-9784-0bbc46b8e1ac CLINVAR:98590 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16fc4b08-0f4a-4ea0-81e1-e54b7816247e CLINVAR:98581 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c442276c-22fe-4419-b4b5-57a421eca85e CLINVAR:98581 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e59917b5-bc60-4f07-ba10-85f09780f636 CLINVAR:98536 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6af3f9f-cd69-42cf-88fc-f82e02b23c8a CLINVAR:98536 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6d0303d-5468-4a2a-9bc2-e5edab051205 CLINVAR:9350 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd378c1b-ed3f-4641-ada8-a82b5f991d7a CLINVAR:9350 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d8ea657-c3de-4bbe-aab1-6e2113bdab8f CLINVAR:638494 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f820600b-c64f-4818-a024-63ad92462b72 CLINVAR:638494 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7e724d4-c4d1-4347-a229-8cf76ab738e7 CLINVAR:98563 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41808baf-81be-47f6-bd51-b2fe9f85072d CLINVAR:98563 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 407cce68-0ec8-437c-ae89-5a806cfc830f CLINVAR:866048 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 917a85b6-9069-4996-a05f-443e40886f20 CLINVAR:866048 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e74863d-c13e-48cf-b11e-ac0116da05c4 CLINVAR:98603 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc8e0b28-09f2-48f1-8482-aff372542be0 CLINVAR:98603 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5150886-d5dd-493b-976c-6028ef7a0e83 CLINVAR:98602 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 93f06db5-85a2-4de2-a091-98fd79c2d669 CLINVAR:98602 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22458ec2-578e-4c48-aad6-91a530ec22b7 CLINVAR:803313 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c9b1dcf-4c12-494e-8011-d359fafe7526 CLINVAR:803313 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49759231-2124-4336-9895-638cc6857b60 CLINVAR:98562 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f903ae5-c272-4dc2-8cbc-726eb8b646d7 CLINVAR:98562 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1becb88c-103d-4846-b709-d4c02ed61c8e CAID:CA8365937 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b948c660-c22d-4cf3-ab22-148ee244dc19 CAID:CA8365937 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e58aad9-b3f8-40b6-900c-e6622879463b CAID:CA397954516 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09f56642-943c-4d9b-848c-dcf1a9e2cded CAID:CA397954516 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a731a51c-a80c-411a-b7d1-17d3de09c29e CLINVAR:581095 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 859e9b8c-d887-475d-9d90-d55cf8c95f5f CLINVAR:581095 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a422b3a9-506f-4a99-bb77-aff8b8f022de CLINVAR:808220 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 084da832-0dd9-4fd7-9b14-2c5a1081e94d CLINVAR:808220 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720fcf22-1ad6-4da9-a8be-92a69d11740a CAID:CA287523530 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c072669-0f81-41de-86df-28673de4ffaf CAID:CA287523530 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0877c6c-2cf3-4ce4-b7ed-81a641890d7a CLINVAR:587413 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10bb00c2-701c-4e63-902b-e49446df4727 CLINVAR:587413 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad1626c0-4222-4d79-a8ee-0228c7e7311a CAID:CA397954276 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26814ced-c447-40a6-91d5-ce1cf33e8802 CAID:CA397954276 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80c9722-1ac8-495a-9d50-6e2e3c9e597e CAID:CA2695224294 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e3d23cd-d5df-4243-ac56-3548d9e6b326 CAID:CA2695224294 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e00dd895-0dbc-4433-80a9-9ffbf6148a3f CAID:CA2837582288 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ad75d5d-5350-496a-bf50-52a657058dbb CAID:CA2837582288 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51388671-d713-49b0-8d44-e96eaabed892 CLINVAR:861651 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdec7b2b-c5a3-4dff-9086-b2b1813f45b9 CLINVAR:861651 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbe2b505-dd48-4173-bfe5-07cff0ac9595 CLINVAR:98609 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87a45154-5456-435c-87ae-1cbba12304e3 CLINVAR:98609 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1159890f-fa3d-4b6b-8441-98c808012311 CLINVAR:98540 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f848af1-761e-4526-9168-1f20c0b1a662 CLINVAR:98540 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90a2f780-4792-46ad-9ff8-b245d6d2d45e CLINVAR:938393 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ce282c4-3f6c-41ab-9b2d-d4d7426369fb CLINVAR:938393 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cabbff9-e194-47e1-98c8-91468362ac02 CLINVAR:689384 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1faff45e-b47e-4c2e-a8cc-b10f0947090e CLINVAR:689384 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dca6ada-38b4-42cc-aa17-889dcc2ddbec CAID:CA2695224281 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7d9b002-31d7-4f87-a624-6fd0f65e8ca5 CAID:CA2695224281 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63414a5-52b8-4065-8016-da49f2fc2aec CAID:CA2695224312 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75d17e3f-7b7e-497b-9420-644bc5639a0c CAID:CA2695224312 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f287e555-2749-4aae-be91-c21bcd7c852d CLINVAR:665724 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 620a9fab-e224-4bea-8a25-f4094613bc2e CLINVAR:665724 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4da4bdf0-844f-4b55-8c79-76172da7d308 CLINVAR:250928 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fe370f2b-25a0-475f-a4ce-aa00273a82df CLINVAR:250928 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38e5bf21-47eb-4c43-a5e1-751c354a1332 CLINVAR:251792 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86e1dc24-4462-49eb-93b2-452524adecc4 CLINVAR:251792 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d2528c-96e4-4e6d-b474-f9b23a23c453 CLINVAR:251793 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c6901ef-66bc-4555-86e5-f5aac783d02f CLINVAR:251793 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66a8f758-ccec-4739-bcaa-9979e6a84f6c CLINVAR:998052 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b3bc2a8a-aeab-4e0d-9e0c-84d95c319cb8 CLINVAR:998052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c98d645e-46a5-4f2f-8ad3-14c9cbf115ae CLINVAR:251790 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ce75354-6c82-499d-8b19-7136cded093c CLINVAR:251790 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 530f20fe-d0d2-4d7e-bcd7-4259c9293054 CLINVAR:100287 biolink:associated_with_increased_likelihood_of MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 727ab843-e9b9-4bd7-bd6e-c10dea4bebdb CLINVAR:100287 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fbca304-3aa0-4810-86f1-2e5e9b7b2f35 CLINVAR:313 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8590fd82-fcc9-490e-9b17-a334aad3cb64 CLINVAR:313 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beae9e1f-0e59-4c30-949a-15089fb0f914 CLINVAR:317 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6e388c3-318e-484d-867e-faceaf42987c CLINVAR:317 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 071b3595-09b7-413b-94bb-3c319397f048 CLINVAR:1684007 biolink:genetically_associated_with MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cbc6cb64-396f-47b5-8051-2f7a09deb928 CLINVAR:1684007 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 088a2c38-60b2-4c98-8297-5a31584ed769 CLINVAR:100305 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d5bc33c-6dc4-4d28-a6c5-119af7a7cbda CLINVAR:100305 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 399946f7-ca7c-438c-8de1-17a6fe51caa8 CLINVAR:292 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e266cff-c49f-43e1-a56d-bd8bd3969f10 CLINVAR:292 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d8c9b59-ed0a-406b-91d5-d218ba297fe0 CLINVAR:251826 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen afbbf9e5-d35f-42c4-8bb2-787ba5ff9d12 CLINVAR:251826 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7903bc15-43d0-4fa4-add4-ea1955af0bd7 CLINVAR:251108 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e567943-598a-4b5e-bc83-e61f4750f20b CLINVAR:251108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 923e26c4-18be-4500-a449-1284690fbb1d CLINVAR:250944 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce3802c5-166f-4518-b2d1-b614425d0914 CLINVAR:250944 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d331928-63b0-468f-8b9f-3cc978fad539 CLINVAR:250964 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ae8cd75-d248-41b0-b251-059da40e8682 CLINVAR:250964 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 623d2821-ef37-46a8-9594-ea15b956dd2b CAID:CA397319701 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ba6dc00c-d9ad-4489-94c6-4b21542d20dc CAID:CA397319701 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62072b13-612b-4828-8955-ed03aaad25a7 CLINVAR:585094 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b8de416-6cf8-4be7-800b-f43c046567d5 CLINVAR:585094 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f808491-9be7-4075-a455-888d4f6a108e CAID:CA2580650458 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b53502e5-a306-4bec-a5f6-e22edbb54783 CAID:CA2580650458 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 060d53cb-abfd-4518-b585-c7003b3a4dc0 CLINVAR:3690 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 687b6cc9-5095-402e-b5f9-5a268c89ea4d CLINVAR:3690 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01e7c7eb-29c5-4db8-93b8-411a682c36a3 CLINVAR:375798 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6dcd263b-0d1a-4184-b88d-cb5e17f58608 CLINVAR:375798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fa0f488-8118-4233-b2e1-59c580c9640f CLINVAR:252034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8f8e8572-ba0a-4bce-982b-bea6bb2808d3 CLINVAR:252034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 902ab2d9-b8f7-40d6-8571-bc683ba929d5 CLINVAR:431535 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19373fe3-7f36-4739-a4c8-3998ca4c054f CLINVAR:431535 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bb9fb4a-fe4c-45cd-9a9c-f1496459246b CLINVAR:252140 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aed8cf2a-1c33-4241-94a0-db890a2dfd89 CLINVAR:252140 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0216fc74-d30c-43de-bd9b-3ce9d64aeb7b CLINVAR:252354 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b981c79-8753-4a23-88f1-753a9fe9deb5 CLINVAR:252354 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e543e377-e76f-4645-bbe8-5d567730a27b CAID:CA410677511 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4597d208-876a-4a45-8aa3-58bd38327993 CAID:CA410677511 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db205aee-a259-4389-ae44-53f1495a1a7d CLINVAR:1684369 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72557459-a1a8-4fdb-b798-f3e8f862ab2c CLINVAR:1684369 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a23ca551-18ac-4bb3-ab23-99360fb17f33 CLINVAR:2137887 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0b0da09-5bde-4c30-b08c-ed74c5404bb1 CLINVAR:2137887 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb62c606-9526-4a9a-8c32-926703e89843 CLINVAR:435347 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f86f4a4-dd58-45cb-a2e4-a8056159c41a CLINVAR:435347 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35d0c444-af47-4829-b9b9-1a7afeb0533f CLINVAR:1684365 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a4a4c7b-c352-4f18-a9c5-e0dba0afe4cc CLINVAR:1684365 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7341d478-8e02-4850-a8a6-a2da000a94fd CLINVAR:449564 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb130919-be46-41db-a324-d268ca581152 CLINVAR:449564 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdedab3c-d1ed-4ea0-8710-c32c9042fe8b CAID:CA397316321 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9746ce8-8e8f-4799-811d-616ea2e496f8 CAID:CA397316321 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f1804c5-48f1-4a6a-9bf0-36b3dab0750b CLINVAR:1691251 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 153b772f-5fd0-4672-954f-0bfc7bb106b8 CLINVAR:1691251 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38127a2b-2a67-4f12-b4a7-8a4ee487f8bf CLINVAR:1691232 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc7574cd-bf45-4e4f-a19d-023979c23eb7 CLINVAR:1691232 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84612ce7-7a67-4a60-8774-e4b451f7dd84 CAID:CA410677679 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3196fe45-357b-40ce-9fc4-1bc741e377f4 CAID:CA410677679 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38088af9-b652-4962-9d78-8bb400fd22e5 CLINVAR:1691253 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c414915-5063-44ee-a34f-d0680fed82db CLINVAR:1691253 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c33e48bd-b583-4134-a148-fa75459a1805 CLINVAR:1679210 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e23d99d6-9d39-4519-a1c6-813a0f06d037 CLINVAR:1679210 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13693815-52a8-4264-b406-de5a8c0faa22 CAID:CA322079952 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54365387-a7a0-4170-9d6f-347fc62c6f3f CAID:CA322079952 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff7e6e55-93bf-4866-8fc5-b68553123a76 CAID:CA410676622 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13422de3-e118-47c2-ac92-5861d1ac7b90 CAID:CA410676622 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00ea6c3b-a394-4582-be2c-4baae7fafd6b CAID:CA410676959 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 33532120-8d5f-4142-a44e-060968892907 CAID:CA410676959 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ee3ab4-2815-437c-b8af-d5e3686f95c1 CAID:CA354447789 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d6b466b-65af-4a58-927d-1878ba3eb6e0 CAID:CA354447789 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd154902-7ad9-4693-9d1d-056c4da7d161 CLINVAR:1691236 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cda9efce-6933-4eff-92a1-01de5b0b3a28 CLINVAR:1691236 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1c653f5-fe77-45dc-b206-c534cc9d8c19 CLINVAR:13529 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b5acc580-201f-4d1d-8859-9a4e30930ead CLINVAR:13529 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc8ac1ef-83c0-4491-a779-b76df083dab9 CAID:CA658760369 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46b9e526-b516-42d9-8c06-bbfcd19f7908 CAID:CA658760369 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5705ad9f-8b40-4925-8658-3e971a184ef2 CAID:CA354446617 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d7917a2-1316-47f7-9a73-d03df8f48fb2 CAID:CA354446617 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f5c0a74-c252-4d0e-9952-2ac63c4e707d CLINVAR:627075 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f725ad15-7186-4e51-a6dc-0b7a839f73b4 CLINVAR:627075 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3695bd0-65ae-4521-886e-efcfeafd01d4 CLINVAR:812970 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 52d95813-0ccd-4188-8afa-210ab62c09cb CLINVAR:812970 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94aa40e6-a937-4018-b3c1-18d325d93ac8 CLINVAR:16038 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3ecec29-37fe-419e-bfe1-10c25b36e6a3 CLINVAR:16038 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2993c44-9e29-4819-83f6-6722aefdaa75 CLINVAR:872581 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cb1b44a-3b6c-4ed6-9add-060dc76012ef CLINVAR:872581 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f76dbd-37b7-4dde-9685-43f8ffa836b0 CLINVAR:2736403 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 899599e1-a778-44be-9acd-66721673e364 CLINVAR:2736403 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 885b92a3-8e8d-458a-952d-83ecfb95a7a6 CLINVAR:523620 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0aed052-2c2c-4f58-85d5-b0800c075b4e CLINVAR:523620 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1f71ad8-a804-483b-a0c2-5f235dfb6ab6 CAID:CA410676856 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6e056ee-f572-4b21-8cec-c7b17e91bf4a CAID:CA410676856 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2118b2ae-68ca-4916-8209-6489a2f38a44 CLINVAR:627320 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d614e2f-249d-4972-a1a0-2f5d45c7124b CLINVAR:627320 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bf45101-3831-49ba-b2bc-c044c19af98c CLINVAR:1691254 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8873462f-b331-4d0e-b0ab-491d8b49ed51 CLINVAR:1691254 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4d6bc37-8c26-4ebd-99a2-57a27a6d2c54 CLINVAR:1342712 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 026e98c2-3721-4469-af8d-0b9a696e85c4 CLINVAR:1342712 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d81c2ae8-2d68-40ce-ab0f-b56f36b02df3 CAID:CA349036828 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a19a359c-154d-4be7-bce8-f8c64eabf6d6 CAID:CA349036828 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41267afa-4f9e-46d9-88b8-1ff0a784c002 CAID:CA349036836 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 726f27c2-a7b8-49fd-b30d-9d7a4badc59e CAID:CA349036836 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5261f49e-bd19-4370-beca-1ed97af6626b CLINVAR:383825 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 042fed04-0a00-4fb6-a6f4-3bf3ce24c47a CLINVAR:383825 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4effdf69-0799-4b21-aef7-838e080da876 CAID:CA343772421 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0effb2dd-2040-4f57-b964-4ea3d607eb07 CAID:CA343772421 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6197cc0e-62bd-4e06-8cf2-5f06b07d9715 CLINVAR:627231 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b65012af-6dda-4fa5-825b-ac89bac951ef CLINVAR:627231 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a493099-6ef8-49a6-9a1a-fa336a0f830d CLINVAR:1127805 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f17c1c30-0fcf-4cc0-870c-5993bdaf47c1 CLINVAR:1127805 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d60a6b4a-624b-49c5-a368-3efbc30615a1 CLINVAR:18045 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2938b519-1806-4ece-9984-4be92c99840b CLINVAR:18045 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe5348c1-b8ea-42e9-8e24-e082322d0d7f CLINVAR:440643 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3bb7929-192e-4982-b717-b8a8a5da2f76 CLINVAR:440643 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60ce85ff-bb3e-4718-af31-e93e60274303 CLINVAR:992900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1927c9b9-65ee-4ceb-b69e-08f08df245a4 CLINVAR:992900 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc46ba6-93ef-4451-b860-d2b2ece5ab7e CLINVAR:251840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cb0d15a-2a4a-47e3-b276-f2d244bae673 CLINVAR:251840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a09448c-3d5b-4912-a110-282e7491ea4a CLINVAR:36456 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4aeab2ea-46be-46b4-a8ee-d071ea1a78ad CLINVAR:36456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 527972ce-3458-4068-adf3-0133908b91ab CLINVAR:183113 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 565f75eb-1028-4a41-834c-53e68a90c64b CLINVAR:183113 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52c9452a-bfc2-41b5-89d8-190e93af621f CLINVAR:1078477 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e62c2fa3-e5e5-4a96-ab1c-f0ee02ea0593 CLINVAR:1078477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73b0cf5f-d9a1-4ed0-8f50-702aad8dd6b7 CLINVAR:571484 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4712bdf-34d1-40f0-a4be-7689c5b9b2ff CLINVAR:571484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deb6d405-c90a-44c8-b36f-bd923e712a7c CLINVAR:3157196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1e454743-7926-42a9-a203-67cf234b038f CLINVAR:3157196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c85c24c-77fd-4ff6-97d9-7ba483608f22 CLINVAR:3368645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e823055-e8ef-49af-a8f0-31f762e7c2d5 CLINVAR:3368645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea4cf8ae-963f-4461-a4f6-680b2d58501b CLINVAR:3342374 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bba32008-5558-4e42-846f-c99b0e2dc815 CLINVAR:3342374 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39e2ffb2-bec7-446c-819e-37acde394caf CLINVAR:2121324 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 12f36773-d0c3-4165-afb6-380d16955135 CLINVAR:2121324 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be1ad8c-798b-4dac-bcc3-808b962d7873 CLINVAR:3377307 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7942a466-a48e-485e-87b9-c3367b8543a2 CLINVAR:3377307 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 197664ae-e014-4561-8102-386abf00bb85 CLINVAR:324989 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d33241be-7c36-4b94-99d4-dfb4e781f903 CLINVAR:324989 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 249894a1-2db0-4274-a09f-c55eadda3a23 CLINVAR:3240389 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f859010a-121a-43ab-90a2-ebb613916a35 CLINVAR:3240389 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77bbb218-8f44-45a7-b58a-581d9ecd647c CLINVAR:898858 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4410986e-b328-4c20-a9c9-8cb649e76017 CLINVAR:898858 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f5e5392-e322-4e68-9d02-4fe2119e2dcb CLINVAR:933316 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4619de9-ceb1-41de-add2-ab4be2f2ae64 CLINVAR:933316 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2340706-09ea-44e0-a3d6-bdead3693505 CLINVAR:3370796 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4547db4d-b000-4342-b0d3-03721becd502 CLINVAR:3370796 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15086a28-afc6-4d75-af70-79e658225967 CLINVAR:3003823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c8336d5-d2ff-417a-8fc8-32f7bc847289 CLINVAR:3003823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66d963d6-bf0f-4e81-a728-2f21a1c2f767 CLINVAR:1477479 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c69fc2d0-9e89-43b3-ae82-8e422f82d4bc CLINVAR:1477479 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d339545-f2e4-44e8-8709-b77441b57a16 CLINVAR:1012031 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 664a468d-9245-4ce1-850b-4bfd5df2300f CLINVAR:1012031 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c67bc2c9-28cd-4d7c-914f-5db373787c57 CLINVAR:3436404 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d04c2b2f-0027-48e9-b988-f10374a20409 CLINVAR:3436404 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bad69fa-4f63-4ada-9d22-1037da975947 CLINVAR:3365708 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da5d6d89-e204-4a22-9df1-0a9db2d60b99 CLINVAR:3365708 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6986115-1714-4ee3-b405-75ebb9f5adf1 CLINVAR:3257846 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58a4dc1f-efba-4931-b95e-c4888050b57a CLINVAR:3257846 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d758448-b9d8-413a-b495-f29098eab381 CLINVAR:1142095 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e81342fd-a40a-4bf3-b7c4-4408771539dd CLINVAR:1142095 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 371fe851-6c80-4b61-b9db-55fab19270b2 CLINVAR:1290150 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ba04453-e435-4d30-9700-19a7d4679892 CLINVAR:1290150 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 986fc1c5-b27a-459d-a885-ce1519a2e171 CLINVAR:633286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0cc7c729-db80-4789-afde-4c55053d7c43 CLINVAR:633286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82274ea2-bbfe-447e-a22a-042e1315f899 CLINVAR:927821 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fdfaa0b8-45b4-432f-a322-69995516cea7 CLINVAR:927821 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f2e9454-72a8-460c-8ee1-39c4af4522e9 CLINVAR:431516 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3dbc62b2-f986-46b9-834b-762f42df54ae CLINVAR:431516 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88975247-74aa-495b-880c-74991e587317 CLINVAR:251492 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e708595c-d09a-400f-b6f5-c9625f8770af CLINVAR:251492 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d5d7f21-8965-4a33-888a-99a741b55199 CLINVAR:2010905 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f85c8a32-7fbf-4577-83dc-7feb6bcac86e CLINVAR:2010905 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen debebe3f-7adc-49b1-84ea-d0caf5e5971a CAID:CA2797727079 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 671a8545-1c08-4876-89d2-556e9a26e0d0 CAID:CA2797727079 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b4956cf-b7ca-4d91-aa36-58118336ea78 CAID:CA386958942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc055af2-fee1-4faa-be71-46df712e0140 CAID:CA386958942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2139bd7-1fa3-4287-9a19-75e363e649cd CLINVAR:2575051 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d6e4eb6-512b-4311-81f2-21e4955441db CLINVAR:2575051 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6842192-80a3-4cb9-82df-96d2ae19a6a6 CAID:CA2018007654 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29ca00f1-09b4-4172-9d54-0bbac173308e CAID:CA2018007654 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa47d303-a5bc-47e3-8915-8c288745650f CAID:CA2018007655 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40425ad4-2785-4f18-b1e7-1bbdc93a4b50 CAID:CA2018007655 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a56eab5-7aae-410b-b63d-6e0a37b63b97 CAID:CA315408883 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d466ff87-082f-4669-a7d4-2090ab5208e5 CAID:CA315408883 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8928f06-7fcf-4e06-8f19-b4064fd78eac CLINVAR:804916 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8475a5af-af92-4a6e-9818-093f015abd9f CLINVAR:804916 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23ac01cd-c3d2-4093-b7d2-e7ae4884d1db CAID:CA315420234 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a41e9dac-f796-4757-aed3-f32c44f0ff6b CAID:CA315420234 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41a59cb0-8386-4108-a604-9cc92d0b4b3b CAID:CA367358198 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5345ccdf-2809-40c8-b1ea-519869ecbfa6 CAID:CA367358198 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f5319d-dd93-45aa-9721-e053dfa769e9 CLINVAR:129144 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43861bf9-6995-4272-9dce-49bac99dde45 CLINVAR:129144 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef2ade02-18be-463c-bdfa-1e1732e33741 CAID:CA367403318 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22fbc392-838a-44ea-bd8b-93e1ee2aad5e CAID:CA367403318 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eaf7c15-921c-46db-b283-87de5ec65c14 CLINVAR:418225 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4215f507-fbfe-443a-8e94-b19c883a19db CLINVAR:418225 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d683ed27-37c2-40c0-96f4-3eb0c219258c CLINVAR:377026 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9864280-d997-4466-af50-5de8973604c1 CLINVAR:377026 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756de372-5575-45fd-940f-37d6e29c8ff0 CLINVAR:196223 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89bd0b37-236f-4eed-abed-01cb548b222c CLINVAR:196223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ffe6e2-8af5-49ff-9b7e-8b92b702c667 CLINVAR:498567 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 100af598-6941-425d-b736-afb9199b696e CLINVAR:498567 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 884a48e8-765b-48c0-8f74-6aa6b7a502f0 CLINVAR:1065143 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 245cbeae-4c48-4481-9c98-9efd426459b4 CLINVAR:1065143 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b569f2fa-1666-421a-9fa8-ce2369a7d651 CLINVAR:370146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10251e03-9996-451e-8b71-a4d3ff22a944 CLINVAR:370146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4923e438-732c-4e15-9adb-70052b0e3158 CLINVAR:371281 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c11756e9-2f96-49e8-9f28-6ae24e6a596d CLINVAR:371281 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c736bc51-c70b-4b2c-b09e-506b9c30fcd4 CLINVAR:189040 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen adb83c10-d22f-4b5b-9026-5e430525d85f CLINVAR:189040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdab52b4-a2fa-402e-8482-1c109d3166ad CLINVAR:556386 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7bb94be1-5460-45d3-9010-0497d1619bde CLINVAR:556386 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19a37d9f-558b-48d0-8690-6e135dafc8fc CLINVAR:370222 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a7c844f-a07d-43b1-b09a-086256c96bbc CLINVAR:370222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bdd727a-eb7b-43f4-9e60-d29952db07b4 CLINVAR:284776 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 56cc7dbb-862d-43df-b1df-e870c98ef51c CLINVAR:284776 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d917448-a8d8-49a2-8674-aa05e5f7a865 CLINVAR:953728 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db959ec1-4d04-41d9-9851-069b7a6064ab CLINVAR:953728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac7dcf40-f6d2-471a-85c9-b53e4f892701 CLINVAR:972793 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e94bd4fd-2d13-46b3-9bbc-da793bb903ea CLINVAR:972793 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1033141a-db8f-4e0e-8f2a-b124f75a6696 CLINVAR:982495 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9e5f0339-9a3e-447a-97e8-514814169bb9 CLINVAR:982495 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f38f1b6c-7fde-4255-bd5e-4427feb729b5 CLINVAR:528065 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6aaae29d-abb2-457a-ac36-f1375a118fed CLINVAR:528065 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 566c4f97-cab4-472d-a6cd-f96dd523d841 CLINVAR:533345 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 474506f6-c8c6-40f9-9249-193e6f596574 CLINVAR:533345 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e8dec0c-0bdb-47c6-86a6-524e9cb7b7fb CAID:CA355961228 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e83d263-fbf8-46ef-85df-95fc49f07f61 CAID:CA355961228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d0cfc69-dfad-4931-b871-23359dac4f90 CLINVAR:222997 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen db962fb0-0d35-4dbe-9a53-5b38bfee39b4 CLINVAR:222997 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b45edda-aa22-4bd6-9f39-baa1c98f5fff CLINVAR:556064 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c0cb03e-633d-4be7-90b1-f1b8e0861a28 CLINVAR:556064 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b3f9c27-befd-480a-8bfc-5d7c2b2b6e5b CLINVAR:551966 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 65a13fa5-02ef-421a-8982-fd7d1ee4cc2c CLINVAR:551966 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d5b2943-a6ce-4346-b2b0-c111769ffd81 CLINVAR:1683229 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e67a52f4-f77c-4dd0-8cc2-566df5f44c7d CLINVAR:1683229 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a75934-9d42-4e8f-b161-4bb63a39bda9 CLINVAR:556358 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c6ffb7f3-d8a8-412c-b025-292119210672 CLINVAR:556358 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e8bc109-6152-4c4c-9a5c-4b77dc99bb82 CLINVAR:950888 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d42ecd13-b4b1-497c-8be1-d048846fa540 CLINVAR:950888 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05f55937-2f6f-4528-942c-0a0d747ae9b7 CLINVAR:550474 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8239f35a-3b28-4f21-8eb6-3aef6e1113aa CLINVAR:550474 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f08cce2-be92-4c68-a1a9-e58c9ce9fab2 CLINVAR:226360 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 327dbab1-77f8-40df-a2d2-4ad6c4d0945a CLINVAR:226360 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f20ec8a9-8c81-4991-96fc-d97b074fc3b1 CLINVAR:251896 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3f915d3-a135-4318-a72c-6f404c377835 CLINVAR:251896 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 897fbada-6b2b-447e-8741-2b31febf7d42 CLINVAR:224617 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08be8d6e-7b22-42da-b154-993b290398ae CLINVAR:224617 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa81c944-eb3b-4126-86dd-babbdd2489b6 CAID:CA400029776 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 655f5f37-ac5b-41a8-b329-185a4b920ee6 CAID:CA400029776 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4449c5a-feb9-436d-bb85-b29162269430 CAID:CA2695224149 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4efbadd2-a145-43d1-95ac-42a80a0e8aea CAID:CA2695224149 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5790efc7-4463-4af8-9bf5-1deac6b50f3c CAID:CA2695224151 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen beb18aa5-abf3-454e-8d8c-2b845cd436be CAID:CA2695224151 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 306ea5d1-778c-4b71-858a-84592128afed CLINVAR:13533 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9310716e-e0b7-4b61-ab72-dce75954ac74 CLINVAR:13533 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70154e86-dbf8-4016-b89b-70537690f9e1 CAID:CA2580060377 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fef7a28-8196-491f-b351-27676095b703 CAID:CA2580060377 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7860769-8428-4d65-b76a-fcfd72586242 CLINVAR:900153 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6cede7cc-65ac-42f7-896f-f7156328f943 CLINVAR:900153 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d20cc2f-004a-47e4-9d78-94b8636f1a1b CLINVAR:503800 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d42f579-f27b-4c86-b685-a29449665561 CLINVAR:503800 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88181155-912f-4f22-993b-d53c30c744d2 CLINVAR:1455030 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6662c7f9-e817-4dae-a55a-a443573024d8 CLINVAR:1455030 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b88244fa-1b43-417d-8392-ad0c3e3b0efc CLINVAR:280068 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52155a78-fb72-4df4-ab95-4dddf5c30df1 CLINVAR:280068 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5447a892-ad32-4872-abce-bf98de9b8682 CLINVAR:242418 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1ef0bfd-56bc-4699-b714-fabc7a73b161 CLINVAR:242418 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abf9cb43-9f70-40e7-952e-69094f755583 CLINVAR:2203089 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 29c913b5-8ac8-4c0f-a5e9-1c7e83ec9cf8 CLINVAR:2203089 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c06a280-3633-4470-99c8-80a22c6af9e3 CLINVAR:94351 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 144c794c-eb10-4477-b030-e957b1bf4418 CLINVAR:94351 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3f7d96a-d4ee-4d39-916e-6580036dc253 CLINVAR:2100759 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cc67b41-4187-4b16-b571-3fabe1ba7c0d CLINVAR:2100759 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 470271a1-aad0-4455-a53e-d9b0ec9ea1c5 CAID:CA2586969535 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d3486ab-57cd-423b-9287-67c6b5c13a65 CAID:CA2586969535 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b704f36a-be4c-4d81-8f63-d2f74eabea72 CLINVAR:488834 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad95acfd-bf5c-450f-8a86-2273104a1453 CLINVAR:488834 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0efbbc5c-dbe5-4325-9d39-e860fe9c017a CLINVAR:500214 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d395887-27f9-4cb3-b919-621014bf6ad0 CLINVAR:500214 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd2d6d61-c30a-481d-bc63-683791b94140 CLINVAR:852860 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b0917650-47f5-4cc3-884d-71dd4634a662 CLINVAR:852860 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 113ad1ae-6eb1-41fb-8c25-2d321fec355a CLINVAR:251763 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0590636c-83d5-4561-98c4-e81ad687896c CLINVAR:251763 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 414410f8-7253-4b83-84b7-2807f0b4969c CLINVAR:1120245 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c3615bb0-5b0c-4102-bfa6-95ffc825067f CLINVAR:1120245 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f86d03e8-eef4-4a8d-a652-2c2482b136ff CLINVAR:200922 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a32f0103-8825-403e-b5c7-dd9d3bbb0e6f CLINVAR:200922 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bb816c1-9ed5-4484-b6ea-ec47cca129b8 CLINVAR:252112 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 357c5bb8-ff95-4fa6-83ee-cded49582650 CLINVAR:252112 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 150ad8b9-6d08-4702-bf35-c4e5749d13bf CLINVAR:406166 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 128ff6ef-2765-4e44-a902-bd1755713266 CLINVAR:406166 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69f20690-b39f-41aa-aacd-76e489ebf7b0 CLINVAR:403662 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c416341e-8ae1-46c5-a753-259f230a842e CLINVAR:403662 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55158b42-0871-4361-ad09-f6cc6a205e6a CLINVAR:627156 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75a9392a-d75c-4cd4-a312-4821c22eafb7 CLINVAR:627156 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2c5d344-9170-48e7-8846-e2e781dfcc0a CAID:CA915940889 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24d63781-7995-4738-b68c-a3e71b9fb833 CAID:CA915940889 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c15ee32-cff8-456c-901e-7f3fcad5f30a CLINVAR:439683 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e7a44e1-b6e6-4c3c-9689-c61f2aa7ade4 CLINVAR:439683 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cf9da26-01c8-4acf-a715-0fc4c84854a9 CLINVAR:10624 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c9f5129-f027-4fce-bfd6-083a7c759b9c CLINVAR:10624 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f462fea-2970-4bc3-b6a1-7b1123df18fb CAID:CA414914394 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6102fe9f-79a0-491b-9daf-240cce5f0096 CAID:CA414914394 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 609fdd68-6748-493f-a0e0-f2cea666d607 CAID:CA414914392 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 20455136-7a5b-4d9d-9a1a-65db28ffeeaf CAID:CA414914392 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a722c006-0c7e-4812-99de-d5b193d2a090 CLINVAR:2691907 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f6facbe-c05e-49a2-a3cf-221d712d201a CLINVAR:2691907 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bc6f97b-73a9-4171-a38c-5389c00c2df5 CLINVAR:11915 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02b51d2d-e013-4c81-92c2-b8c0e8014df7 CLINVAR:11915 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b31cc1-42ba-439b-89d1-76d7b5509557 CLINVAR:552333 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 394ae121-4e06-4b6d-8a53-af5e77e69b6e CLINVAR:552333 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28536147-bbd8-4fe4-8d77-bc12419636f2 CLINVAR:555490 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f60ed50e-56d9-42bd-a9a4-ea088e7799f5 CLINVAR:555490 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b6e923-593b-4cf5-b15a-d771bec1927c CLINVAR:9725 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e672124-f214-4008-a08d-d800d438d58d CLINVAR:9725 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 829a6975-2a51-4dc2-9100-b606cfde1b38 CLINVAR:9603 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fac6d488-64cc-44f7-a88a-0a15dcbf6cb4 CLINVAR:9603 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8c37120-3c19-4951-83cc-55e92214117f CLINVAR:544259 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 820b1f1f-0088-4c17-ac9f-2df4ff32138c CLINVAR:544259 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e39168a-eb64-41f3-8fcd-1ae29355b79b CLINVAR:1139929 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ae95ec9-1d80-444e-a0a1-64745b1888ae CLINVAR:1139929 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a30ff74-ca0c-4bd8-a29f-b578b03b7d0a CLINVAR:7282 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8b3e886-a9ca-48be-a60c-5757cda1de72 CLINVAR:7282 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df6496f-2c7d-4160-ba8d-1f14c59e6198 CLINVAR:558189 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b67cfa7b-6943-4484-a842-3651866b43ec CLINVAR:558189 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53e336c0-7278-4c73-bde6-25c78eb86320 CLINVAR:242721 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bac3215d-cc75-4d42-8744-dfdb71b530ef CLINVAR:242721 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa04e899-3c45-461e-a98f-93491fcc1be6 CAID:CA2573332240 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd5ff9c8-3d37-43cd-8f59-3f011560ae0b CAID:CA2573332240 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be9f9c6-bec9-403c-b6ef-4ddb48c00147 CLINVAR:550883 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b26c20e0-a2f7-4198-9a66-3fdc0eb57561 CLINVAR:550883 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b55d46f5-7c79-471b-9d15-87c8e8624dce CLINVAR:456720 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4461a1b5-f7c7-452f-ae33-e743355ca366 CLINVAR:456720 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 927e2734-557a-482d-b0e2-01de11c48f35 CAID:CA355965290 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e178aa7-26ad-4ead-8142-ca2f0ebcdb0d CAID:CA355965290 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07272659-6c5b-40d6-9a43-09f898d87cef CAID:CA2580618260 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4844b6c-b3ec-4ee1-ad85-16bc96856aa3 CAID:CA2580618260 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120179fb-542e-4249-8b97-2bf9b816496f CLINVAR:11921 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5eebb1c6-c7df-49f0-9957-0954d156373f CLINVAR:11921 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f2bc63a-3650-42ab-93a7-2908682a9839 CLINVAR:9657 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47d8f76a-5cfc-4ca4-9a47-dd4ed2092ea6 CLINVAR:9657 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58961266-822e-420e-9ba8-4e74eb9ecee1 CLINVAR:9625 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c58a165b-9b6c-43a8-923d-84b27922ef8b CLINVAR:9625 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37c0e6c4-193f-4d9e-9f57-393a39cbbb3a CLINVAR:430688 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4ec41730-f1de-4eb0-b42d-9d5acf5fc16f CLINVAR:430688 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54fb900a-3532-48f1-945c-2f053607e970 CLINVAR:689933 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae77b6e8-dff4-4ebd-9988-1841e4d1a3cf CLINVAR:689933 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc6eacc4-ebda-4624-b8e0-7c8ad7352ba8 CLINVAR:689935 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4651ffc2-0c7a-4aec-ac68-65e49c772086 CLINVAR:689935 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba3e7e6e-3b94-4f56-850e-d28a4b421587 CLINVAR:984179 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 273d1ccb-718d-45d7-a65b-a51cd22dc75f CLINVAR:984179 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1502fcc6-6ade-4670-985d-48f8fd11d51b CLINVAR:557942 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f74941c-041b-43c2-bf74-6ff2f5fa668d CLINVAR:557942 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7c21b99-c11a-4b54-a75e-5e6a038f65b9 CLINVAR:1162140 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54111469-4ef4-45c3-a81a-2314cdc5c92e CLINVAR:1162140 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58348681-833a-4b45-b58a-5bb7ee527ec9 CLINVAR:496861 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3bb24f8-b30a-4aa4-bcd8-630a35dcaeb6 CLINVAR:496861 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a1a329c-3043-4fb2-919f-309362ab5c09 CLINVAR:1523621 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c4f98bc7-c8d4-4379-8eb2-329bd76525a5 CLINVAR:1523621 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7db80593-e19d-4e09-9381-d34d0da888ec CLINVAR:2961353 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e68d6c5-39b8-49d9-9fd3-fa19ff7882fc CLINVAR:2961353 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f323ac-75ca-4548-91c5-7c94e278b03d CLINVAR:2025155 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5d7234a-9062-4bfe-bf1a-bb2076246847 CLINVAR:2025155 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2353b98-eab1-4195-a0bd-67dd3591c4c8 CLINVAR:167191 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80b8d06a-1589-45d3-a567-fcf36012693e CLINVAR:167191 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19bff8b5-4aa2-48b6-b3d1-c5c6c1685f4f CLINVAR:2203498 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87693cd3-b51a-4308-8cb5-a6975e9333a0 CLINVAR:2203498 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 044b6ba3-ebeb-48da-8c45-5bbf15332ca8 CLINVAR:373452 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e262b791-84d1-4ad7-aa3f-3a969e817dd7 CLINVAR:373452 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2705806c-7a92-4e84-b520-562d42fd0c8d CLINVAR:567526 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92a3fe84-d5c8-4e5f-b67b-2638182cd9ec CLINVAR:567526 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5181ed06-e379-4814-8ba2-eaea30705d35 CLINVAR:801414 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a428c47e-deda-4c6d-bfa3-420d90398de2 CLINVAR:801414 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c56bc6df-4603-4afc-993e-588f6270445a CAID:CA9043555 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8fcf53d1-6fbd-4739-ae52-b54801c160b4 CAID:CA9043555 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8437657c-8705-412c-8477-1212f3e5d617 CLINVAR:251427 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcbdaf56-588a-492f-b159-a2cbbf4e4134 CLINVAR:251427 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aafc1ac0-622a-4d15-bba8-32789d83f39b CLINVAR:251901 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a834e71c-82b8-4567-b8a4-3d1aaff55ad9 CLINVAR:251901 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae77aaf8-086f-4c2b-8364-901d9bf52410 CLINVAR:252149 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 710a6f46-003b-4af7-bd85-f737a2834481 CLINVAR:252149 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 969842e5-6606-4232-8fb5-0a739f6577b5 CLINVAR:252152 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be503822-581f-40c3-a52f-e9946f1be3c5 CLINVAR:252152 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49db5470-5d3f-4b53-9a11-c179fa68ab5c CLINVAR:251656 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c1a007c-0773-488d-a5d3-d2a8159f9894 CLINVAR:251656 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5ff0388-8fb7-43c1-b6c8-ad8448bd6551 CLINVAR:1967129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d325a086-276a-40eb-9a98-7855c5ac9122 CLINVAR:1967129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 921a3d99-a659-42e9-93ab-f472c94ab75e CLINVAR:251657 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f770470-618e-4604-a7f1-11f2b0993eb4 CLINVAR:251657 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd33afa-8f2a-4fe3-a127-2702032f1e37 CLINVAR:252185 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccfcf3d7-6eb8-4a44-a203-fa923a90306a CLINVAR:252185 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b34bc6c4-2eae-4477-b239-41f9569f3407 CLINVAR:161275 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 60fc7654-6ce0-44e3-84eb-69bc80c981f1 CLINVAR:161275 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e00be43a-a594-4e25-9730-6fd736be8489 CLINVAR:251567 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 418d4243-f037-420b-8669-34b10579f328 CLINVAR:251567 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adec3c8d-0cb9-47b3-8821-e0efcaa21c43 CLINVAR:475749 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0835a43d-a765-4142-ab82-1e0e6b96dd1e CLINVAR:475749 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55a4b967-01db-4ff8-a274-1007ae671e5e CLINVAR:421233 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 425fead5-5335-47e7-9704-7fe4951063a4 CLINVAR:421233 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca7fafc9-f02f-406e-b2cc-86085cc91dfe CLINVAR:376857 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44bc8632-298e-4a38-9fe8-9de9b104feee CLINVAR:376857 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2942c4f8-649d-4738-99e4-6c685bceaef4 CLINVAR:635783 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5125732b-0a85-4a8d-82db-e6ed50208ef5 CLINVAR:635783 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c99a67-c63f-4e5d-a08c-2a2b13ea6f78 CLINVAR:254653 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4b4564f8-055c-46e8-8af6-44b72218c2f7 CLINVAR:254653 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f88000-870e-4ba9-b9a2-6a6f2c390b66 CLINVAR:254651 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 722c00b6-12c5-4ea7-9247-4c2fef1db7b9 CLINVAR:254651 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 094143be-62ff-4272-b7fc-e45c6353abff CLINVAR:254652 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de33b00d-18d5-4e02-a5f3-d2f37c5e2c62 CLINVAR:254652 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9977b886-4c3b-40d2-994d-a4c3c2d6f15f CLINVAR:1466744 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4792f124-3862-4e6a-8f8c-237d45444791 CLINVAR:1466744 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a2c6f98-7b83-4b3a-aed0-41333545ac18 CLINVAR:430375 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca2fd9c1-03a9-43c9-b415-e3066f71ed7a CLINVAR:430375 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f0b388a-3adf-44cc-afb0-83b28d417fb4 CLINVAR:3587669 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99ea67c6-de2a-4c3c-93ce-c84f6b7c9224 CLINVAR:3587669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 358ef8d7-e141-4167-ae28-4933e229b589 CLINVAR:3342643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8650e368-1766-4df4-a0d7-fbc4c0ea70fb CLINVAR:3342643 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e719438-1645-4595-a7a2-eeb07a015dd8 CLINVAR:3365552 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b4ed2ed-1770-408c-97ca-408bced76811 CLINVAR:3365552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bf0845e-0d2a-479c-ba92-b05744df277c CLINVAR:2730693 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a4fe2d3-36e1-4526-929d-a8773f6b2ad5 CLINVAR:2730693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f0a415b-c9e1-4297-89b3-49479c3d6973 CLINVAR:3367906 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4578887-c680-4d07-b929-e0f11b7ec953 CLINVAR:3367906 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c319e94-b826-4b5e-a00a-b2b581c0f692 CLINVAR:3766477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b6b3c4b-a11d-49c9-8e88-d018b6f3aba4 CLINVAR:3766477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0367ac0-4bdd-4a89-b49d-6b111e781267 CLINVAR:1878806 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b663b2b8-66e2-4008-8148-c4c842ac7178 CLINVAR:1878806 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf2b3edd-3f00-4b7e-8d29-002787abfba5 CLINVAR:143761 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e0c1130-341b-4eac-a9c4-d81a648d06cf CLINVAR:143761 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76226d67-5e81-4465-972a-270422bab485 CLINVAR:3436407 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18effbd9-f38d-4516-9e89-295c798703fd CLINVAR:3436407 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e8f7cee-ba2d-423e-9d7e-558e5986b138 CLINVAR:3624665 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1e9505c-8bf7-4766-85fb-17992e476188 CLINVAR:3624665 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7270ef7f-c455-45db-9f9e-1a40a9d1a56b CLINVAR:3436402 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acb00929-0001-4be7-8c50-4d9a6d546e66 CLINVAR:3436402 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a5c3b2-b0a9-4b57-970f-f96f2d19d23d CLINVAR:3607919 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6489e9c-715b-48b0-a21b-e36b4b84d019 CLINVAR:3607919 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5479a131-711e-4549-bb2d-89d911577807 CLINVAR:3363507 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b12eb70c-754a-4152-9979-422f31fa0e9f CLINVAR:3363507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 669c373c-c318-4372-87f5-7cacfbfb5d3a CAID:CA410203973 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd1a8d01-7f9a-4af8-ad30-b89d1ef25e30 CAID:CA410203973 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2ec910-fd33-44c9-955c-d1803a1085be CLINVAR:947774 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef343c91-83c9-4c21-a8f7-72255c41c5da CLINVAR:947774 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c916d85e-011b-47f2-b1d2-672d2f502314 CLINVAR:3603866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 076d804c-a19d-4ee5-ad19-6e3d35f8693b CLINVAR:3603866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9035f6f4-4714-4c0e-afdf-7bce33ce13cd CLINVAR:3240392 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36db2dd9-0337-41e2-87a0-93e5d1c764a7 CLINVAR:3240392 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77f8b223-185b-4e9d-8618-ed47ee491179 CLINVAR:3068261 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a630174-fa0f-4a44-9222-8d789312d6f9 CLINVAR:3068261 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a662796-776d-4cf1-a0eb-f3a04d97d00d CLINVAR:943098 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fc2473b-2282-445f-8625-0aa72107d8ec CLINVAR:943098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50eb3072-55de-4532-aeb4-827c7016db94 CAID:CA2695237640 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f8f1974-62f0-4ef8-bb82-269f2eb72543 CAID:CA2695237640 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2171e85-1c89-44db-9518-54a0ed7a669c CLINVAR:143316 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen acb50dce-4dc5-405e-a5aa-f91f3b921d51 CLINVAR:143316 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04335c24-2bab-4da6-8642-04598e5cde8b CLINVAR:2443586 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4f1ebcb4-7f23-41ef-b892-220a49692a8b CLINVAR:2443586 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f8a0d8f-fc82-4e0a-8d22-00dd945e1047 CLINVAR:654655 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e25cfb1d-7218-4712-a5ce-0faed373876d CLINVAR:654655 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be1b83ae-a34c-4fe7-9b76-f2e9d32bd6c2 CLINVAR:850287 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 364566ca-ec2b-4f7b-b649-8a081cdcb18c CLINVAR:850287 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f085ab9d-77b9-44b8-a058-1f3fb7876369 CLINVAR:236480 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68791cd3-ddf9-43b9-8bf5-dc9b6cc998ad CLINVAR:236480 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 721a9c34-6503-455a-9f3e-9439cae6434e CLINVAR:952461 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d22ded6-0585-4d24-9f65-181c3da57409 CLINVAR:952461 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afe3d95b-f7c6-4dc6-aa4e-11d7e24bbbaf CAID:CA523302413 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2bcd015f-509d-43ca-bdac-e5d2ecdd29aa CAID:CA523302413 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e046abec-b8bf-46df-84a7-160a8332a7a8 CLINVAR:1470027 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0ba7e450-7bf2-40da-8c03-3e6e56b7d784 CLINVAR:1470027 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c85c870-bf17-43a4-9364-d33122b32314 CLINVAR:973954 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8e2b9ae-1ae9-40df-ab47-7c16f1f9a8d9 CLINVAR:973954 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d769deb-9a80-49c6-9f2e-577fd605967a CAID:CA340741225 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf522309-1322-46ac-930f-5bbf4dbe651f CAID:CA340741225 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e16db02a-7372-4ceb-bf67-0ee5e445ee96 CLINVAR:1399221 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 656c3b1c-00f3-4b45-a108-e84efcc90b28 CLINVAR:1399221 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 917ec28b-fc0d-4e76-aebb-e5e908437817 CLINVAR:374139 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69c2124e-8985-4a1d-abd5-2b6842598a12 CLINVAR:374139 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3abaea63-63ba-4c29-9d54-9f608f69f914 CLINVAR:552059 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1d7fe04a-0a91-45ea-91a9-f0ed9e898594 CLINVAR:552059 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c82539e-6cca-405d-b958-12b194c47dce CLINVAR:1364817 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e44fe44a-6c1a-432f-a702-65e0acf66064 CLINVAR:1364817 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23eab733-9a91-41a7-960d-3864b98e17d2 CLINVAR:1177402 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 996c530f-3fc6-41d3-b7a1-f6fc071f68d3 CLINVAR:1177402 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 332f3f61-ff77-4a4e-a0c3-e931de0a25a4 CLINVAR:533979 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a5d9509-9a09-4860-aa79-4d25cd182161 CLINVAR:533979 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ac8d022-113a-4d37-a906-9b1bb9c46a22 CLINVAR:530855 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28bfba5b-e6ff-4083-99b8-9fcaec7a6722 CLINVAR:530855 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa36c953-4077-4730-b4fc-bc3f4ba3628c CLINVAR:158923 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1e8209d3-6bd6-48fa-b9a0-b4c830cbbcdf CLINVAR:158923 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f92919-1963-4f6b-bd44-bfb7263d5694 CLINVAR:164656 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78581067-83a4-4bf2-9ab9-550f4e0de224 CLINVAR:164656 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cb661d8-3f45-4fd9-827a-a92d06accff9 CLINVAR:1308583 biolink:genetically_associated_with MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81221e07-5970-4902-a915-2006e4c4c987 CLINVAR:1308583 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adf0b4d6-1931-4f24-b6bd-1530b61c3016 CLINVAR:1496916 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9d89fe6-6de5-406d-94ae-d057640d20a4 CLINVAR:1496916 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99230e08-41ab-4dd2-9161-4b6047b427fe CAID:CA412361050 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen da3b6ed8-2e28-49ee-8328-a80cd003bb05 CAID:CA412361050 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b414f248-dddc-43c6-9295-29b81c45434c CAID:CA412353168 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a57f1602-c0f6-4ada-a48a-e168dcb5df0b CAID:CA412353168 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af00296c-fcfa-4b72-97e4-55263e2b0f73 CAID:CA294589 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bc0ce94-d5bc-455c-86b6-f13403906004 CAID:CA294589 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c392243c-0022-4a96-8608-3594c9137fbd CLINVAR:1701032 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97a841b0-1eeb-414f-9ba4-63454cdef029 CLINVAR:1701032 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67b1fb7b-321b-4129-8765-66cd9e47f877 CLINVAR:98831 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9e8ecbd-18fc-443f-bc7e-be6922b2ab81 CLINVAR:98831 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76140547-cdb7-4583-97d2-cb7e49685877 CLINVAR:978981 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44584225-c630-472d-8a48-a08276ffc997 CLINVAR:978981 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05472210-7b4f-4922-82c1-f5f05edb0fb0 CAID:CA340742778 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9de6c45a-469d-4322-bc2c-03147819334b CAID:CA340742778 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2ecd302-d31e-4ba5-970d-1c18dadffac6 CLINVAR:973964 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2e4b2bf3-84ca-46cb-a445-b992c06a474a CLINVAR:973964 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acd91863-11b6-4f01-b7a9-ada619b18cb3 CLINVAR:203579 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c847c094-13cf-4483-9d62-8f589a4544d0 CLINVAR:203579 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd10af9-a083-4d55-857c-9c93d7f41425 CLINVAR:65956 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa5835d0-8018-4cf4-90e7-914ee9a6b21b CLINVAR:65956 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d6f62e3-c336-4ef0-950d-ef7b7476fa8d CLINVAR:420138 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c573046-3357-4281-afd3-2aab069e5d62 CLINVAR:420138 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7b26b1d-44b7-4ce1-b198-927375b7ae24 CLINVAR:2582809 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b57dda0-345b-4b58-b99c-7c83af4b1f71 CLINVAR:2582809 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80903926-2bb0-4f7f-985e-3dfb638c2a1f CLINVAR:280732 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab8a0a6f-4dbe-491e-bdfb-dfb18a976953 CLINVAR:280732 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 594c3054-d092-42f3-985f-dab4407ec875 CLINVAR:93549 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e20189e-8f06-417c-81ee-cf01bbf360fa CLINVAR:93549 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a22c5bc8-855a-45fe-8927-b9c5556f265e CLINVAR:2582036 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a269e34-c069-48c9-bb19-af47da4fb6bc CLINVAR:2582036 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bec3aadf-6181-48bf-a0ff-b0a0713ae1ed CLINVAR:430393 biolink:genetically_associated_with MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 708f5beb-b8aa-4b26-a4de-a908b21c272f CLINVAR:430393 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13858e59-b3d2-47d2-80db-687681793014 CLINVAR:18291 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42eb4882-578a-4381-80f3-371ccb16bc63 CLINVAR:18291 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1199bbf1-4659-4c40-9580-5b1f00532450 CLINVAR:18288 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7d3a191-00c6-413f-af93-072858868e17 CLINVAR:18288 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6d0dfc6-7a6b-4525-a808-d6fd60ac46a2 CLINVAR:377433 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 253c04d7-1fdd-4e09-a61e-31fb3267b6ec CLINVAR:377433 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c630f221-1ad7-4455-9992-1e97a15bfa0c CLINVAR:532770 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 570afe89-83c3-4777-9fb8-33cac44ef887 CLINVAR:532770 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 034517f8-fa06-40ea-af08-371f34a6d3a6 CLINVAR:2572159 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 86fd9d5f-3813-4af2-9ac2-88113543d5aa CLINVAR:2572159 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 133ad52f-33fa-4269-9ad1-d73d8d6323ad CLINVAR:42098 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fefeb3d1-bd2f-410a-bf20-eeb589829e97 CLINVAR:42098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 453256f7-40e3-4c70-b089-9cd5b5ca28c2 CLINVAR:655896 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9045fae5-83ff-4013-814b-468acd41cd28 CLINVAR:655896 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13675b95-4eda-43ec-8e3b-a2a7d40846f9 CLINVAR:497129 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ccb4fa9e-46b5-4e93-ab1d-3c3f23e57399 CLINVAR:497129 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a87b52b2-9297-4d34-b53c-fd7196fab9f3 CAID:CA347212124 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8cdd425d-93c1-4996-8e95-101dac2b8bba CAID:CA347212124 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 855442fa-606a-4e40-b3e8-6f60c1fb350e CLINVAR:167025 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e6a26b42-a940-475a-b069-dda4e3402dd9 CLINVAR:167025 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3bece4b-b427-42bd-aced-0eeb8e176ac4 CLINVAR:167021 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1172673c-c871-4145-b3df-86f73d7368c1 CLINVAR:167021 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba43924-4134-47e7-9dd3-ff2d8000608b CLINVAR:3775113 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85f65afe-3d11-45b1-a383-32c761018046 CLINVAR:3775113 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cee25cf-3238-4b9f-adc3-3d25ebc87c6d CLINVAR:443997 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f9b714f-164e-4d54-9f22-28179f045883 CLINVAR:443997 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e27f2a9-1db8-4d9b-a1d5-661956230565 CLINVAR:6672 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33c72e53-4140-4da8-92c8-b04ebbf05050 CLINVAR:6672 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd92f2ce-d1fc-40f5-95fd-5cd36b04a34d CLINVAR:1350756 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e6d2769-1625-4c58-8fe3-791c13872db9 CLINVAR:1350756 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc7f02ea-c6ac-415a-8e81-a7c3edd95dcf CLINVAR:217146 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bed902f3-51e4-46ce-8e3e-ae68b5cf3c0b CLINVAR:217146 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e290cb8e-ad14-4399-87d0-37437f4925bd CLINVAR:166786 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f007f19-5ced-44d3-9a53-dc4cd93f01a1 CLINVAR:166786 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79964160-d2a0-4027-82a7-e9b785e6f5c4 CLINVAR:592961 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d17fc084-362c-4aa7-b2c6-25abb692b561 CLINVAR:592961 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e683fcd3-d91c-4c6c-831a-22a6045239cb CAID:CA347212126 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e3a1d3d-a3d5-4e35-afca-d383bd1c4bc9 CAID:CA347212126 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21ecc83e-e720-435d-a0f3-57285b590ca6 CLINVAR:290335 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b21f5a5f-1ea0-4e35-8cf8-9ccd3131f5f2 CLINVAR:290335 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf82bfc1-6adf-49d1-af1b-3dc4b91e221d CAID:CA414917675 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a6679cb-4338-414f-a240-e10123dd4054 CAID:CA414917675 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ad2b524-103e-412a-bfef-9eab2ece71e5 CAID:CA414438886 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ee3aabf-37f2-4851-ad20-4762544f799e CAID:CA414438886 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 597de8c8-50ff-4d94-a18c-c59efcc9f5df CAID:CA414434363 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2980774-d7ee-4d95-a833-b2029332e47d CAID:CA414434363 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8c178d7-0476-4f24-8122-cd504df48d5f CAID:CA414446705 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6426f36c-f2bd-43d3-82d0-159ff2a83553 CAID:CA414446705 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cfa98a0-d2fb-4771-bca5-8dffe48f86dd CLINVAR:804141 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2473f05-d1fa-4979-a2f9-8b28b0706d18 CLINVAR:804141 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6db3348-62ec-40b5-afae-b6f49694f584 CLINVAR:627123 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72516e6c-3457-4a55-be41-30c6c62e7149 CLINVAR:627123 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4147cf2-f280-44d8-be2e-15336386ff32 CLINVAR:557885 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 703c0094-c7b2-4932-a301-4fab74e1fc2a CLINVAR:557885 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d7b0716-26bd-4e35-86ad-98d82fcae01c CLINVAR:960079 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3d85b649-f4ec-4426-bed0-413960dda0df CLINVAR:960079 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 813e27d8-1354-4fb2-aa0a-55c632cbbb59 CAID:CA355961650 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9458ca9-54f0-4195-8d47-8f59307720fb CAID:CA355961650 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ef83b14-869a-4f35-afe9-20948055d858 CLINVAR:11922 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1451f7e-b8df-487c-8280-b5387a03d688 CLINVAR:11922 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2149e19-a4d9-441d-aded-167d58062cd2 CLINVAR:252242 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d347d24d-6aac-4902-be47-fa57ad3f51cf CLINVAR:252242 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8804e373-7c6c-4b89-876c-2e45a1653875 CLINVAR:226387 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c19911d-5248-4d46-a959-da41891c27a9 CLINVAR:226387 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0596009b-b365-4409-9026-33c1afe92248 CLINVAR:252259 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7f5ce53-9bb3-492b-8636-5f72c9a7630f CLINVAR:252259 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7332de9d-9d68-4044-aa88-a8a1d927503b CLINVAR:629370 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a1993e70-830d-49cd-a8ed-9c67242f54c9 CLINVAR:629370 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7b6410e-af82-4aa2-a4a6-1e5668661eef CLINVAR:251877 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b55ad7c9-c5d7-4474-ad85-aabdfc837237 CLINVAR:251877 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a49ba12e-79fd-4841-80c4-ea2e0e5a1cfb CLINVAR:920005 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a9eeac1-86e2-4ee8-b2e0-f118d3bcb8a0 CLINVAR:920005 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81283830-fb22-412e-9217-d5a270afb0da CLINVAR:251843 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e3801ed-9397-4b60-b8c2-40933efc2fca CLINVAR:251843 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33e28370-edb7-4e7d-ad62-68b89e4df400 CLINVAR:251838 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15ca6f3d-5f4f-4024-8045-b8f0f8607d92 CLINVAR:251838 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f32a51e6-8542-4d43-8d4f-f000ab46f7bc CLINVAR:1713361 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4afb656-94c5-4127-ac8a-9f155478b670 CLINVAR:1713361 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e47a6d3e-ba2a-498f-8e54-aaaba15f740f CLINVAR:550622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ecb2f9c-c1e5-402c-a07e-b3c8e48b0be8 CLINVAR:550622 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc5f6a3-fa0b-43bc-a7c1-7c3dbf792778 CLINVAR:955458 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9350d500-3c0b-4eb2-b61f-34d07b69f682 CLINVAR:955458 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ffa2e43-15bd-4a8e-a467-c546ba51e002 CLINVAR:287 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 074d1950-2eae-4022-9556-bdb9f76aa39b CLINVAR:287 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f183d6df-0c6e-480b-8ad8-a4780ccabd79 CLINVAR:100312 biolink:associated_with_increased_likelihood_of MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aa39bf62-895a-40cd-aba9-ab9b199142ec CLINVAR:100312 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b55b6eb-62bf-468e-b97e-aced56ee5583 CLINVAR:474882 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5217de1-3216-4c26-8b6e-0123ef619742 CLINVAR:474882 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c820d6c3-c141-4bab-88d4-a8bb2692e1a8 CLINVAR:203582 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b08bd5d-38d8-4e54-8cc4-0f501597503f CLINVAR:203582 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4027d0f0-1175-46bd-a622-7426a1cac50a CLINVAR:3720746 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1cba5d19-992e-4ce5-b1ed-4ddc1497aa8b CLINVAR:3720746 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7886a8c-fdf2-41d6-a313-ac6a176338a9 CLINVAR:2684202 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccf7f6a4-f130-444d-a3d0-07c1fad7ee6d CLINVAR:2684202 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff54d72-ea22-4086-b5a5-2149a62b17be CAID:CA409103833 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1c490a73-e209-4dc6-a100-48d8852fb50f CAID:CA409103833 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94826c84-3cb1-4ddc-8612-9fff7a76e4d6 CAID:CA2573051296 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87248204-0c96-4690-83ca-d9ff00236678 CAID:CA2573051296 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0e6b3db-07f2-4fb9-9076-bdd39dbea931 CAID:CA2573051297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcadffc4-0052-432b-a996-be6d5939c5d1 CAID:CA2573051297 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb69d511-37f7-4899-81c9-748dcdefca16 CLINVAR:2580866 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d184a863-02e5-4d7a-8e24-758451613ce8 CLINVAR:2580866 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 582bef8b-e15f-4571-877d-b31a7f8369c6 CLINVAR:2627337 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61fb9f40-5923-419e-9343-6a3a0ff9f82b CLINVAR:2627337 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75325ee6-cf7b-4cb2-a2ab-a9618de20501 CLINVAR:3893273 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 37d342e5-34cb-42e5-b11a-c6f8eab70791 CLINVAR:3893273 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd06bd33-a70e-4c18-878c-70a58b52da61 CLINVAR:2136527 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b35f6c2-f5c6-4c2b-96cb-79ae13fbb357 CLINVAR:2136527 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa814b5e-494d-4ecd-a877-12670d2eedfe CLINVAR:3893274 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0202a6ac-2447-4bac-a760-08c33077e2b1 CLINVAR:3893274 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ee5de6-ef60-44e5-8b98-76d29c1365a6 CLINVAR:994611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24f401d7-cfe6-444a-8f9a-e84d45257884 CLINVAR:994611 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43ef137d-6ee5-4be1-aa49-e071020a7237 CAID:CA386960397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 318e7d71-2f6b-4e7e-ade6-3a4880da5f0a CAID:CA386960397 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4e047d9-c02c-497a-84ce-522fa4eac1a8 CLINVAR:763076 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57831869-d9f0-408e-a4c8-5926d5546f43 CLINVAR:763076 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d021092-de6d-4428-a4bd-65b5cb191bb9 CLINVAR:1494029 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa10c1c8-3833-4d4b-9fe7-13717f4185f3 CLINVAR:1494029 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed4caaf1-e47b-4234-82d6-f17871fde97d CLINVAR:102829 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3cb388b3-09ba-4450-b9df-2e80ca3e2f43 CLINVAR:102829 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9aab298-f0af-4b78-8522-7653d6e1c4c7 CLINVAR:102828 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe9909db-d655-47f1-b760-295d03f02f89 CLINVAR:102828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e9783aa-feef-4ffd-bcd5-2da419702ca3 CLINVAR:982109 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 196f5461-bba7-4bec-861e-901f6305ef9d CLINVAR:982109 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e868689-09cd-4858-85a1-5817c10d4495 CLINVAR:3893280 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09d04528-3f00-49dd-96c4-8eda8b52676e CLINVAR:3893280 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6963c423-f078-4b70-9299-398dbcb3b7b0 CLINVAR:972780 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c352e7d3-ee54-4b29-851f-97b0f292d448 CLINVAR:972780 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4efda4e-d5ee-442b-9456-0f3f395e8494 CLINVAR:972770 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a470028a-0a85-481b-978c-e1483cae114b CLINVAR:972770 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8af59e81-669a-45ec-bd8a-05aa091fe052 CLINVAR:2735983 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9790c51c-c038-4c1d-adf5-90ffc86de1f7 CLINVAR:2735983 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5efdb4ee-d9ee-4b27-823d-c374e0f1021f CLINVAR:3893277 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 78eb7d68-b3ae-4a95-bea4-de49d79a046e CLINVAR:3893277 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f777c0a-b407-41ec-b5c6-313fb278bbd3 CLINVAR:3369823 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 42b5bbb2-2d07-4780-84d5-ac969020c7c1 CLINVAR:3369823 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c75157b4-dee2-4f44-ae3b-4e9ae98ae4dd CLINVAR:3893276 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58821a28-e5ec-4ac3-a97b-66748f639645 CLINVAR:3893276 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9da9afc9-9565-41d2-9825-320339ee7b8d CLINVAR:1184933 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1ff1936-2cbd-418e-bf3e-acd27721de8e CLINVAR:1184933 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8add76c-a4cc-40a1-96db-72b7fe1c53cf CLINVAR:372684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7468844a-67ed-4c46-beff-d6a157fec462 CLINVAR:372684 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 390d1c9c-0097-461e-8fad-2de456528941 CLINVAR:251013 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16f4de7f-6f7b-43fa-a011-27f70e2d1911 CLINVAR:251013 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39d2d649-2e13-43c9-8eea-eac3b9c7752e CLINVAR:206972 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0fb19481-1a9a-4cb2-a670-2da83e612293 CLINVAR:206972 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be9c8f5e-2cba-45db-bd6e-15e47e148679 CLINVAR:2435687 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e8b1ae0-c53d-4a03-a64f-83bbfb29ccf7 CLINVAR:2435687 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aadf48a-7b0b-447b-9594-e07612f9ecbf CLINVAR:894363 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2dbcb3a4-a081-47fb-8de1-3498d18d0ae6 CLINVAR:894363 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 774e4bea-d5bb-4181-b797-1bc9b467dd45 CLINVAR:541724 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4ed2e1c-3c28-4604-b9e3-4cd47117feec CLINVAR:541724 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a27fb39-7362-48a1-9a40-b006edc49bf5 CLINVAR:1496514 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aeac8226-2e54-4342-9319-d77940ffa878 CLINVAR:1496514 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed19d952-86c8-42c7-95a1-c88267cff179 CLINVAR:9552 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcace301-d385-499b-b56a-a4ea3462d060 CLINVAR:9552 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93ac42e2-ec7b-4080-9d4a-c0df7b37f124 CLINVAR:9551 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29c66902-8e8b-4625-a06f-fb2725a8dcb0 CLINVAR:9551 biolink:is_sequence_variant_of HGNC:7502 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9261cf7c-2985-4aca-a3ae-c5862c8727f0 CLINVAR:9562 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 733814ed-08e4-4c5d-9f55-a98958350844 CLINVAR:9562 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a98a8c1-f283-48c2-bf2f-5e9e3c361470 CLINVAR:3899317 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff3672b8-3406-4b68-9e03-c846dc80a7f2 CLINVAR:3899317 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73344858-ee24-4333-aa9b-06de6628fcdf CLINVAR:425907 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71a3bb69-9a21-4b1d-ba49-27573e610e35 CLINVAR:425907 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23b3c716-6a1b-4aef-a13c-37fc1712c03e CLINVAR:425912 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e7a9e26b-69bc-45ba-86fb-a1bc0983fb66 CLINVAR:425912 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb402a0f-7f51-4214-941f-98512b7d1d80 CLINVAR:425913 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d689a8a3-fc6a-416a-a227-1962b764e943 CLINVAR:425913 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c88e26b7-30f5-40a6-83a3-ef08441854f2 CLINVAR:425914 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 041b3cb3-85fe-40d7-86db-d7a90372be39 CLINVAR:425914 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45bc687b-0f0c-4d4d-8832-c6fa69f90128 CLINVAR:440534 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6e7dd20a-cd55-452b-97ba-b1d49dad4558 CLINVAR:440534 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c0cbcee-3cc3-4dba-b416-af45305f6887 CLINVAR:631470 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2179a5f-648e-4c89-9dae-b510ae8a9354 CLINVAR:631470 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67964987-1f36-41dd-99d4-9e4c69db09ab CLINVAR:9639 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 048ecdc5-3e6c-44b2-919c-6fe9fe1205eb CLINVAR:9639 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1517c6d-e03e-44f2-95c3-68ef8491d3d9 CLINVAR:9648 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5960a63-ba33-4e28-b04f-1e5125eead9d CLINVAR:9648 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 857e960b-3cbe-47b3-ab67-5117859c843b CLINVAR:9594 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c42c9aa5-a516-44b6-bf1d-e5d5c42ef165 CLINVAR:9594 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc72b8d9-a567-4d5e-909a-311b2de6dc48 CLINVAR:689805 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9497dbf2-d619-4385-82a2-efe0699528a6 CLINVAR:689805 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2228cad-10eb-46f8-bf81-5ebbd83c16d1 CLINVAR:178943 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc774b34-c94c-44c1-a482-da8744c66729 CLINVAR:178943 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebbe24fb-3723-46bf-a0fa-433457724511 CLINVAR:40885 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 07fe41fd-6e88-46fc-9561-ec69cc549fca CLINVAR:40885 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa63b2d7-5e13-473c-b959-cfcbc4f8f70e CAID:CA3046583529 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6dd74212-eec0-45cf-bdd0-85143da5d962 CAID:CA3046583529 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b3b999d-4b16-4f44-915b-c2e1da396027 CLINVAR:16039 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 507785f2-402e-4752-8841-e8d9a643655b CLINVAR:16039 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a109a088-1987-4798-86a3-4abb827ccc88 CAID:CA2635578680 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c21f15bd-f37c-4017-9ea0-c9157214a3d2 CAID:CA2635578680 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a4f8626-bc2c-4455-916c-d6444b7be338 CLINVAR:2736404 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40819494-45b1-417a-a0ca-6399094f9a9e CLINVAR:2736404 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39679186-7632-4bbc-af14-55314781f589 CAID:CA397318655 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b2fc14d-d395-4110-869d-522411f75e85 CAID:CA397318655 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2eb450d-2b18-4e0b-b87b-c0975fcbaa54 CAID:CA397318711 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fa164c48-2355-4cf1-bf2d-513f5508fc57 CAID:CA397318711 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de0e1b6a-7153-4335-890b-f4be277dcc32 CAID:CA2695224152 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 062b6351-6831-428d-b497-137c3d3a94ea CAID:CA2695224152 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24c6b2fa-a232-44a8-b6a9-02e740612e65 CAID:CA2695224153 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ff6cd79-f4ca-41a4-9e11-bfd695e97afe CAID:CA2695224153 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc876405-87ed-40a7-85ba-1984c78c9056 CAID:CA2695224154 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69b9b68f-4f75-456d-8c00-13c5bee1808c CAID:CA2695224154 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a20ef09-1ecd-4d2b-a605-e23460f9436f CAID:CA354449503 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccc1c2e6-9cc2-4018-a0dd-1fc2c609b687 CAID:CA354449503 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd6d1e61-86d4-42bf-bde5-f2918a2a4351 CLINVAR:3725077 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0ca9be9b-2122-44e9-aeab-e0f6d883f1fc CLINVAR:3725077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7894408d-365c-4f00-80d4-1b1b9ad25eb1 CLINVAR:3650680 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b8c9d0fb-658d-44a4-80e8-1abe337bad5b CLINVAR:3650680 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ef87dd1-89bf-4c13-bba5-b51163bd0093 CLINVAR:3650681 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 881e5327-8ead-42a1-b854-095101a950e8 CLINVAR:3650681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d45260f-b194-4346-b0e7-17612e049716 CLINVAR:3668347 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e3bda98-80e2-4ec7-b916-13f84724ac32 CLINVAR:3668347 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d158d178-edc8-4ddb-9908-813e01319fee CLINVAR:3768410 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c97ec5e-0fa0-4e3c-b5e3-4bd8bddd639f CLINVAR:3768410 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b0dfed7-7599-463a-83a7-444cf74a1ac8 CLINVAR:3662819 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae9e8d3e-3b75-4ba1-9590-b4a3ab3a3bfa CLINVAR:3662819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f9611d0-1600-451a-ba7e-51d43ad5ba5a CLINVAR:2813100 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f7476983-355d-479c-9129-314bb28cc249 CLINVAR:2813100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c76026a7-7d69-4093-847a-0b5ad1ea12e4 CLINVAR:3656666 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 341259df-cf8d-4cd3-bfc6-039b280e6829 CLINVAR:3656666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a1b5d5b-130e-4d25-aa5b-99a72be708ee CLINVAR:3772099 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ace6350-2328-47bd-98f7-d226c946a0aa CLINVAR:3772099 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f143a39c-accd-40c8-8f23-6c79a76b5dca CLINVAR:3663825 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8530e39c-1ccb-4051-93ad-030e0f9afd35 CLINVAR:3663825 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ff3fa9d-85ad-47c2-b924-c5e1f7e8b0b6 CLINVAR:994410 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d3d63b4-a13f-4414-a2fa-f661a97ec602 CLINVAR:994410 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54486a8a-b96d-49ef-9daf-204eb26c6384 CLINVAR:3587670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 40a7948b-076b-4714-9721-4261368e4911 CLINVAR:3587670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaf93908-8dde-4c27-8a79-b44e5d5d4718 CLINVAR:3674110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f97e140-32a6-4412-b169-7ab34efbe53c CLINVAR:3674110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78df2850-ce78-41f3-ad3e-3478cb02b7c2 CLINVAR:3653535 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb0d8db0-e856-4c7f-852d-1d512c000826 CLINVAR:3653535 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceefd9e9-9d84-4b2b-89ce-fb8ae517ab4a CLINVAR:3638768 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6efc3229-a3bf-4ff4-8b71-7e79048e2e16 CLINVAR:3638768 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cc49541-3c17-43b1-af9f-9ff10ee2a294 CAID:CA414917674 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6dc520b4-22ec-4e67-8f5d-62edae0f9dd4 CAID:CA414917674 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c6c182c-7d17-4d4f-bac8-03788313fe4c CLINVAR:3672603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5e45751-2aef-4408-9aaa-5ca1672c8661 CLINVAR:3672603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0768a6c-e6c7-44ea-bed1-0766b4bb1b21 CLINVAR:3647941 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0ca78f5-c115-415e-83d7-acdf7ed965fb CLINVAR:3647941 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f395899-51c4-40c4-bc23-df666df39d46 CLINVAR:3666186 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc704923-9238-4c69-a83e-627965342f9b CLINVAR:3666186 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5309fd2e-6329-4f61-9228-d93c299f6e16 CLINVAR:3671857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 531a02ea-7fcb-43fb-8ae8-03950ca59aaa CLINVAR:3671857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9eecaf7-c679-4d26-b3d3-d3e1121a3127 CLINVAR:3677909 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f424fe98-2b72-4b74-ba3c-265e6be51361 CLINVAR:3677909 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 082b6bd6-57eb-45ae-ad78-63d47610679d CAID:CA414910923 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 281464e5-799f-4159-a2cc-ddf558c0dcf5 CAID:CA414910923 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7d7fd3b-d4f9-4a9c-8d7a-e5cd206958de CLINVAR:3661791 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56e8ba3c-472f-4f16-8402-58934ffcd322 CLINVAR:3661791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b68722c7-8df4-4c6e-a37c-22896ce61b17 CLINVAR:3727697 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3689bea2-2ead-4de3-86cc-bcaf1fc0e03c CLINVAR:3727697 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 004caf83-50b2-476d-b229-3302b469d64d CLINVAR:3651897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 640fcd3a-9979-43f5-8424-1df391542414 CLINVAR:3651897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3359ad8c-5a9b-4a68-a076-27944cfcd833 CLINVAR:3727827 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4b8b0e90-e3ec-40a3-b1f5-55e69f336493 CLINVAR:3727827 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d77484c-ddbe-4dd3-b744-d7c886ae72ab CLINVAR:917689 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 566c7961-073d-45a0-8759-b7f99f7e1f9a CLINVAR:917689 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c07a77a-cbdc-4e4d-8f6d-c67f59d48ee9 CLINVAR:2840670 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b32440f1-1e75-4982-b005-3be3570dbd5d CLINVAR:2840670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef4b3da5-2555-46a4-acc4-09a69f35e7a9 CLINVAR:3693271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7add0781-76b9-43c3-a92e-9564984e3d78 CLINVAR:3693271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd295c3-9fce-4878-82ea-2db9946d1515 CLINVAR:3618297 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d2e861a1-ff7d-476f-8bff-cee3cb84514b CLINVAR:3618297 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d24194f9-44a1-4575-8d12-2fbb031a3149 CLINVAR:3642848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f56c5211-f0a6-41b4-812c-60fee875b26d CLINVAR:3642848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9ca558-3955-418d-a4ea-92669f8caac7 CLINVAR:553131 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4d00f29-6646-4301-91ba-515b612f1228 CLINVAR:553131 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5229d7dc-8953-49c6-9a2b-b0bcc89f1872 CLINVAR:1321357 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1e7d4079-596d-451c-bcbc-0189e349f3fe CLINVAR:1321357 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac743449-84bc-4b07-aeb6-15482fe06a05 CLINVAR:754391 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d872866c-a424-4764-91bf-0c2dd72d72b3 CLINVAR:754391 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82bd07be-ba66-4853-b0ae-3553b900186f CLINVAR:222993 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7d7b554-ae17-494b-9604-eb2526a721f9 CLINVAR:222993 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 576111ea-53f3-4b38-8fb4-0607f4e96e60 CLINVAR:1323092 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd83f2dc-0435-4191-b7a7-03e052579871 CLINVAR:1323092 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1634535d-506c-439b-9a32-1086d116ca45 CLINVAR:3906898 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 898083cf-7a19-4e56-86b0-97f010a3fbe8 CLINVAR:3906898 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 814adb77-c3ba-48a1-b96f-4c2de2b61f10 CLINVAR:2734632 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 92591cd3-70e0-4046-807d-384d4980c884 CLINVAR:2734632 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63b2d71d-a0ee-4a22-bb02-0d16c1c69cc6 CLINVAR:1518010 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cecf74c6-4407-4cd4-aba5-d8e7f5af9f03 CLINVAR:1518010 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d5c57e-00d8-4e58-95a7-a76a1f0595fd CLINVAR:425916 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb057811-f5c5-43e4-8365-895de1d49a28 CLINVAR:425916 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e0b0eb-98c2-4a05-8fb0-9895f52e4503 CLINVAR:425917 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 449bacd0-4349-4034-8cc6-3b9fe21a2088 CLINVAR:425917 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e71f6742-9592-492d-a726-2332b917dcab CLINVAR:428193 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c532fe78-6927-48c8-a855-39b48968014e CLINVAR:428193 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e9e49ac-417b-4386-87ce-fed1e4f4d023 CLINVAR:929236 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a26ed635-af26-4d08-b50f-ad00d77f8bda CLINVAR:929236 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55867e0e-5042-49c0-b8a0-d1625fc47713 CLINVAR:846228 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fadf959-9514-4a8d-984e-aa4424f3a9a6 CLINVAR:846228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 020b1d2a-d5e5-45b8-8372-1215232a3cfb CLINVAR:959950 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58930055-3d38-4167-b2d8-0ce0acb59e95 CLINVAR:959950 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad71503-a1b7-4509-9f4a-b21037ee66a9 CLINVAR:526532 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4dfeb650-6aa9-4a62-bf34-d30f7b00deeb CLINVAR:526532 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efbf8b48-cef8-4027-9c44-1e90cc7816b1 CLINVAR:1684005 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72175954-0b24-41a7-aa63-08976e31b259 CLINVAR:1684005 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7390667a-6a84-44c9-bdef-4049ce94a948 CLINVAR:100398 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5122614-6cf4-4e5e-be46-567150ea6432 CLINVAR:100398 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87d26006-5550-4458-ab29-1c476d9a6cdf CLINVAR:541725 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d6da048-ee4d-4f50-9a27-c00677dda848 CLINVAR:541725 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f263866-1b81-4294-951e-730d25c443e9 CLINVAR:1021968 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f65d7004-f3ee-474f-9a2f-af282e0504f3 CLINVAR:1021968 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5547af0b-13c0-4d2e-8b31-742923dd6bad CLINVAR:1691250 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d72dd2ca-4808-403a-815f-3ce7e4336c97 CLINVAR:1691250 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6095319f-ba2c-41e4-98e0-5eae3068c62d CLINVAR:1684012 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ed3fb032-ab2d-4eed-a3a5-0b6319bfc832 CLINVAR:1684012 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cd6ffa5-a63b-4f96-a71f-77925f24ac33 CLINVAR:100269 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 433943a0-a321-4b54-af33-258e5c1fe832 CLINVAR:100269 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc5144f9-3a9d-4168-8eb2-5d62d6c720ef CLINVAR:626960 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a65f0ac-1485-438a-bb09-e4a1c5ac1bc0 CLINVAR:626960 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b250f15-f70a-4b8f-b564-21307e15254f CLINVAR:1684483 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c7fbbc2-ed14-4f54-8399-760b430b7fe4 CLINVAR:1684483 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 330117a8-6851-4103-b4f8-c445c107676c CAID:CA397318622 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e0426cd-6590-4d32-b2d0-c66333879688 CAID:CA397318622 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a1597d4-b715-400e-bcb9-4609d9343279 CAID:CA2695224141 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 319b41ea-ad3b-4805-9e1c-d8bd848566db CAID:CA2695224141 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 821f46bd-898a-409d-95b8-b93cc2bdcd52 CAID:CA2695224140 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 986f7cf1-cf05-42c5-9035-09497bf7d262 CAID:CA2695224140 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ab1232e-521b-487a-9cb7-fb3392bc5938 CAID:CA2695224138 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54815203-56f5-4921-a627-83cd2850189d CAID:CA2695224138 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2acf8ce-c92a-414a-8b33-b9892a5c0f4d CLINVAR:438884 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 122dd2de-699a-46b0-97ba-9f8e8b227392 CLINVAR:438884 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc9a6077-b295-4f62-821e-f20ac846c3de CLINVAR:689818 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0485211d-9cb0-4abc-adce-f2f0a8a3e006 CLINVAR:689818 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab0df16c-9222-42f5-813b-fa8006c8ca3a CLINVAR:689852 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2ba961cb-6d04-448a-aa5d-340ff78877fd CLINVAR:689852 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73c407f9-d772-42bf-b500-fc3b1fff6a4f CLINVAR:9549 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2f79cc6-8eaa-4619-8d02-af0e1c203cb1 CLINVAR:9549 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2af79935-f2d7-4774-925b-5dfc5d486aad CLINVAR:690050 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9fd4455f-5fc8-4a07-aca1-9c6a22fabd47 CLINVAR:690050 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 206f37b0-819b-486e-9731-c9812ea7bed2 CLINVAR:9600 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d9a0506-f72c-4cd9-8823-7fb1621df0a9 CLINVAR:9600 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a279d2c9-1406-4089-9d9d-2aa62fbcfc94 CLINVAR:690070 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a13adc51-4aac-4e5c-9c50-4ba422590e27 CLINVAR:690070 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90589786-e488-4fd9-bad6-9dea457b5a94 CLINVAR:690126 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7a0a5ca0-6d3d-407c-82c5-f5ef8910da23 CLINVAR:690126 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1059788e-43be-495f-aa03-3572a0b97c2a CLINVAR:689870 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a97f7a69-953a-4ebf-b68f-064f82fad8ad CLINVAR:689870 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef746011-b3c0-4acc-bc91-7161b70bc5ed CLINVAR:289571 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 446a7695-595e-49c1-aed9-e102a1cf02af CLINVAR:289571 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd6e69a-ee66-4b58-b9ba-0123cdee63b4 CLINVAR:288438 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b52816f-9ea3-4aae-885e-c7e65fbe769d CLINVAR:288438 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8dd81d6-9107-403e-a65a-f9d04bda25c0 CAID:CA2832612269 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fff921e-a5da-4acc-98d5-057dd23e1a73 CAID:CA2832612269 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8771c89-9a70-4d8e-bdc7-dee0a889951c CAID:CA2837582287 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4448798-09ce-4337-a422-beb08a78a972 CAID:CA2837582287 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 403e8c58-f903-4f72-bc7a-76fcbf8aac6e CLINVAR:94344 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3848949-9599-44ec-9c2b-09d6896a0bd0 CLINVAR:94344 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 179c2a0f-52fc-4dcf-9f66-2c051e664d31 CLINVAR:646166 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb186920-e99b-4d30-be20-27d786bf8bfa CLINVAR:646166 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fc0a309-7ac5-40f3-aa3b-29467cef0a3a CLINVAR:2912979 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c466606d-942f-4845-805e-1de5bd0d8f8a CLINVAR:2912979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 453ff277-4057-4054-bac7-a39c91421dfd CLINVAR:94330 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2a83d46f-b985-4b29-994d-44204bc7f209 CLINVAR:94330 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d514e48f-4b6a-48cb-98b6-33d441a77afa CLINVAR:197217 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 860ed605-17d8-44c4-8c3b-b67d443e0935 CLINVAR:197217 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6b946ae-64a9-4b15-8c6c-53b9fac6ddb9 CLINVAR:94262 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3c757404-ea8a-4275-ac29-133e9def98a2 CLINVAR:94262 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c28d6a2a-0e97-43ff-99bb-2127ee6ea6f6 CLINVAR:808764 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c605e9c-90df-4085-b62f-5210f464aae1 CLINVAR:808764 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92f54448-1844-40dd-87fc-685fa15bfee0 CLINVAR:281072 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23fa60ed-fc8f-4e6c-850d-ba2dd10dfd23 CLINVAR:281072 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e76cf8-8f90-42aa-b421-a498113b7c26 CLINVAR:468648 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3742ad94-6c82-47be-978c-b1b3964afcee CLINVAR:468648 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff442f34-c4b3-4b3a-9405-fe53e517f51b CLINVAR:17613 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 165c440a-2dbe-443e-a586-2831a27dfa8e CLINVAR:17613 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8066075e-3cdb-43b8-a875-c887707e038b CLINVAR:497565 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40bc7dd0-aafd-4d50-a63f-fd66a64925f3 CLINVAR:497565 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3936e4d4-51f8-4db7-9b5d-a1c3df83aa25 CLINVAR:94324 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b452441d-70df-4ecc-9192-2b18d1cbbfab CLINVAR:94324 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73d1e0ce-aedd-4008-9da5-241f468fc7d8 CLINVAR:94317 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ace05747-548d-49d0-8c4f-01d6e0ef980c CLINVAR:94317 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98319d7c-383d-467b-8410-f573fe16a7e3 CLINVAR:281197 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf102a4a-7475-44e2-a437-dbf6fe97dcb1 CLINVAR:281197 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 099ee765-ded2-4f6b-be3a-d8b9779ebec1 CLINVAR:2424693 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5f4274d-dfc6-4390-9acd-3520cdb96d28 CLINVAR:2424693 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6244b0a-d1b8-45f1-83c8-3d75b227ee76 CLINVAR:486792 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0a33ae30-babf-4e82-b604-6829f2552240 CLINVAR:486792 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 966e2d8a-bf0c-4e2f-9813-e676bb741b25 CLINVAR:141515 biolink:causes MONDO:0021055 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b917fc9-3cc4-4dc7-85ae-b58d40789df6 CLINVAR:141515 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fe87104-a850-4bae-b163-eda66b312988 CLINVAR:246402 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 99fbd0a4-519f-447f-b321-8735c28859f8 CLINVAR:246402 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b95d39b0-2875-4b1e-9128-84ad8479d134 CLINVAR:265372 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen acbe2470-b43f-4e89-8647-35dc12768927 CLINVAR:265372 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7645a601-46ae-47c8-90af-b9a768c87e49 CLINVAR:822326 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f904cb52-25cc-45c6-8410-6b80fc0e32ff CLINVAR:822326 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2e28f2a-5298-4ce0-a0b1-a6b1ce0ce902 CLINVAR:1319598 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 69fdd623-0871-4579-bfe0-1aee718a240f CLINVAR:1319598 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6094f60a-fe2a-455d-8ee8-28abe4751239 CLINVAR:1025291 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16ecfb67-d661-4443-9daf-bd14a55bf6e2 CLINVAR:1025291 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d40eceb3-184f-4889-a801-f471dae31b59 CLINVAR:485146 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2f26d4d-e7d8-446a-acf5-7728cfe35800 CLINVAR:485146 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0d98658-4417-4333-935c-c8e9a3a34cad CLINVAR:231954 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9738e674-dd68-4d80-bccf-71e8ea54116a CLINVAR:231954 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94c9d2c4-aeaf-4f26-ac69-9ce259fc416d CLINVAR:233890 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46c5ace7-7a45-4f79-b5d8-61776e420c42 CLINVAR:233890 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a932f7d3-3fa1-4657-954a-01a3fbc7d3c3 CLINVAR:576816 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52ee46d8-c428-4432-9684-c16f12f7c08f CLINVAR:576816 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b5162ff-f8ba-45a2-98d5-352432303ae4 CLINVAR:411406 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47c4edae-1561-4294-a696-8a7a2891226f CLINVAR:411406 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac22b074-1c6b-42b9-a778-79d8cc5e0a46 CLINVAR:185659 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62a485cb-e6f2-43c8-9023-9fc7d34ba242 CLINVAR:185659 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd402a98-7970-449c-a481-08d6e633a3e6 CLINVAR:653103 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 056f3e8a-62c9-4b89-8f6c-8f9b40b108de CLINVAR:653103 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9339307c-f94c-45e1-9736-6a19c4090903 CLINVAR:3900733 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 488803be-a053-4e5b-a074-a396e39ec1d4 CLINVAR:3900733 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19bd94fa-91a7-433f-b131-4941defff749 CLINVAR:693373 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 581a10f0-2c3f-4879-b3e4-a16ade6a6e97 CLINVAR:693373 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e15b7ee-678d-4d39-882e-eb6c7da6d40e CLINVAR:11925 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c911c068-d26b-4ff1-bc61-8811aba5cf0b CLINVAR:11925 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa0cc38e-dd01-4772-aeba-08e701e4c7f1 CLINVAR:692983 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 75638906-de55-47e4-8722-da4866d54cd4 CLINVAR:692983 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595703da-08b9-453d-b330-7301f9b11e4c CAID:CA16022700 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbbbd8de-a24a-4408-99a5-1851a5d54887 CAID:CA16022700 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf0fb77b-d3f1-4944-99bb-8e4da9b90b17 CLINVAR:827255 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0bc10365-2edc-4c66-8486-44994d30d760 CLINVAR:827255 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bfdfd35-d263-4c6d-a14b-11637a261cbc CLINVAR:648862 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b95578a-feee-466f-a042-4b51f6ec512f CLINVAR:648862 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95e4b50a-d02d-4ea9-a4d5-974747b345d0 CAID:CA2695201659 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fee35054-dffa-4f49-b0b7-a4eb9399004c CAID:CA2695201659 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0e2cc01-fb4a-4821-8ebd-c19547537d9a CLINVAR:654864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 69996993-e5b7-469d-9d94-5f42a1bc9515 CLINVAR:654864 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2caef9ee-1f65-4cb7-8ee8-177a16fe39f4 CLINVAR:537529 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47074d94-c4ba-4d75-91bb-c126cd62b7de CLINVAR:537529 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70346826-7268-4f1b-9d3c-b9a67535d0e7 CLINVAR:217924 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f600d6e5-e3f3-41c1-83f3-b9116fa6b310 CLINVAR:217924 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24787d05-e328-4448-9fdf-dbb542c11602 CLINVAR:690113 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4c72bd14-e997-448c-a937-d7d1d5a58d05 CLINVAR:690113 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aed702c9-cfcc-4619-ab57-8a5fe5aa33e4 CLINVAR:411416 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cbd27255-95ed-4fc2-8a62-2b52eb056b2d CLINVAR:411416 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed155d81-0a49-4011-a43c-edfc5050047b CLINVAR:279681 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78258470-cafb-43c5-8088-34c687b95d38 CLINVAR:279681 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f58e36e-f9ee-4413-b2ed-58c0ca3b5945 CLINVAR:127305 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0e0bfd50-9cbe-44c9-8257-8d652e509b87 CLINVAR:127305 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ee14818-6342-4bd6-b766-3399e895a07a CLINVAR:230520 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1770ddf-498b-4f63-9ebf-06f8f89bfd19 CLINVAR:230520 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc82a37-3a06-42f7-8c70-0852e75e339c CLINVAR:428166 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7507441b-fc44-4fee-9b88-eff1aae1036a CLINVAR:428166 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5211199c-fc19-4c02-89d7-d58817afd889 CLINVAR:690177 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9877a7e4-9e7e-4dd2-aac7-97be8d3bd233 CLINVAR:690177 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50c75dec-b03d-4e97-9687-4db4b2b79901 CLINVAR:925741 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4262ba27-0aef-48c2-8596-8bcd2cffb586 CLINVAR:925741 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e845884c-e590-4ef7-aa56-451192337675 CLINVAR:469955 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 319cb557-fcc8-48b8-821e-c8cb3b646e2a CLINVAR:469955 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435b6e30-e42d-40f0-a649-0f2b4df2e94d CLINVAR:693513 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b535aa2-b494-4d4c-a914-5fd3f3a2018d CLINVAR:693513 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8114094-c8d8-41d0-9479-1ec504b7afd1 CLINVAR:184702 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 14bebef3-25d3-477f-bd4a-7c7da2621180 CLINVAR:184702 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 002c152a-d3d7-4c05-914a-7fcfcbd79f28 CLINVAR:433614 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e65f011-d9ee-4c7b-b4c3-6e4cfb321254 CLINVAR:433614 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f84570b2-cd56-437c-9e56-bc53c98bbe23 CLINVAR:411368 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9aa1949d-38c6-43d1-a7a5-a80a0481349d CLINVAR:411368 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 747efaef-12b6-4329-b04c-c482180017b8 CLINVAR:42248 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7aaf1c69-4141-4b5e-bf8a-bfce7f47fc41 CLINVAR:42248 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9e434de-2a8b-4305-b5a7-160932143456 CLINVAR:1361956 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a44ca49c-46c6-42ce-a0eb-382b15a10db7 CLINVAR:1361956 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 799f1c41-bfa2-41b6-a805-bcf695d1bf16 CLINVAR:2583432 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46edce76-33d5-4120-82f1-9089c737eee1 CLINVAR:2583432 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdea6ebf-66bf-4311-945d-a5c9188c582e CLINVAR:2562354 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6f95a0e-f8bf-4cd3-bb76-d1a31b1d3035 CLINVAR:2562354 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca67b4b-1055-4f4d-845d-dd5097e5eeae CLINVAR:2773776 biolink:genetically_associated_with MONDO:0021057 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1d23209-1618-4067-903b-b705a98732e2 CLINVAR:2773776 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8c1ffe5-c240-4200-96c2-399188605169 CLINVAR:1050028 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffc2d727-0105-4cfa-b1c0-fce0c0e5fd38 CLINVAR:1050028 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26e40e51-176c-48e4-8aaf-3f0f875ac005 CLINVAR:3892980 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4d7c4ad5-54cd-4368-bdf8-5250c70dd951 CLINVAR:3892980 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce3a8fe2-ff91-4b83-9110-daeb1769390c CLINVAR:824696 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb1dbd3b-30f7-4e19-93f8-15a45aefa811 CLINVAR:824696 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4be7114-7fd9-46d1-9b7f-0be9c83a6cef CLINVAR:411479 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf043c05-9250-4e35-9088-9dbf07f0b3ba CLINVAR:411479 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ac678b7-5c07-49b5-a585-77301fa8de19 CLINVAR:438865 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8300c151-c7f3-44b0-8033-abe8e9d6bebe CLINVAR:438865 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 745914ad-585f-4a48-8e65-d8a55526bc3a CLINVAR:183857 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97b763b2-14a7-4eed-8433-6b13a20ff0fb CLINVAR:183857 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 658950bf-0a2d-4b05-9680-cdeddc26e748 CLINVAR:934724 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d61da695-91b5-44bc-aca0-8153d931a48c CLINVAR:934724 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a6008c6-ac49-4aa0-a67e-2225fcabb9cc CLINVAR:1056286 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c005ed42-f611-4bc1-8b20-b2e07239fc60 CLINVAR:1056286 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e3c2b0d-c9d1-48f7-9a63-86c3454b251a CLINVAR:946475 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3795ae2-a33c-4b96-9dfe-75029f075480 CLINVAR:946475 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8ccca18-06ae-466b-ac79-38965a403653 CLINVAR:1342107 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd3753bf-23aa-4f81-8925-8d8d8bc32762 CLINVAR:1342107 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c122458a-26e8-432d-a884-5a96e748fda2 CLINVAR:866404 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d28bffc-f5d4-4943-8914-7190e792f575 CLINVAR:866404 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93f8b57d-83fa-413b-b616-7e2790da50c3 CLINVAR:423184 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4445abd6-b680-4e41-9b23-95064089191e CLINVAR:423184 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 502fb51d-5f0d-49bd-9fd1-99a4181e7187 CLINVAR:68077 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2eed2dcb-e3b5-43c1-949f-9a69969fb7ce CLINVAR:68077 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49d515fc-2e87-4ba1-a555-ae3a37e75be3 CLINVAR:371642 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 555d27cc-40b3-4cde-9cf0-97340c1ce6f8 CLINVAR:371642 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6fa9c72-6c57-414d-8962-3dba11e5456c CLINVAR:372497 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36c54b26-fc5e-4e44-8895-c2f6faca429c CLINVAR:372497 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd230cde-2380-45a9-ae69-05b7bfd0a0c8 CLINVAR:99014 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 279b4468-9570-40d8-a8d3-13a290c35699 CLINVAR:99014 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c80fbef-289e-4f4a-a69b-ddb8d232c6e2 CLINVAR:98996 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2eb8036a-a69c-489f-b98d-a63058cdb55c CLINVAR:98996 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c95e0950-19e5-42d0-9682-04d3e9d0ddbc CAID:CA412370589 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5bb6e915-261f-45a6-bccf-cf3f515de62e CAID:CA412370589 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1b62d69-4f7a-46ca-8d2c-0f01fb67efae CLINVAR:279886 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 887472a0-5ae2-4bf9-aebe-b8a229237d0d CLINVAR:279886 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87fbf517-5151-4845-a422-32a3e4807373 CLINVAR:370754 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e1bf896-fa78-4d48-a85a-d03ec015e5fe CLINVAR:370754 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f6f0c56-3283-4397-958a-01084f51d89f CAID:CA412371717 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 424b5f0c-740f-4cd9-8fef-4e19c721030a CAID:CA412371717 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 192d747c-fdc7-42ab-83de-5c03e6e5e5b6 CLINVAR:798785 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f2be9d3-a838-4dc4-bccf-557719cc8ebf CLINVAR:798785 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73892f7d-9d09-4c37-8bb8-e6b41bc5a38f CLINVAR:98958 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2fa04e7-9690-4880-ade7-d0daa2b7636c CLINVAR:98958 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e61e1ae8-e7a5-4269-91c3-5277ca713216 CLINVAR:98943 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2c9a9db7-06f9-48b0-973b-bf6c906166ce CLINVAR:98943 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d92831b-869d-446c-8965-a908ad5c9935 CLINVAR:98936 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 712b0e1a-ece1-45dc-b500-92bdd7bf134c CLINVAR:98936 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d55bf6a5-aa58-43fc-b783-b48a65f6e067 CLINVAR:9887 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d87c577b-49fc-437f-b019-00ac2a44c04a CLINVAR:9887 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f89368c0-8f38-47c3-ab3d-240bd2ee4c1a CLINVAR:98925 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5923d55e-af75-4585-a51a-503298c73602 CLINVAR:98925 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7752e63c-28a0-41de-9674-2810b5238d52 CLINVAR:98921 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a64e6841-dd00-461b-a127-4688e97cf24b CLINVAR:98921 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0159b6fd-108c-4d70-891e-83553e161eac CLINVAR:1066419 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69de319b-5ff0-4545-87a3-5ce90bf9a776 CLINVAR:1066419 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a78aa512-1be5-41b7-aec1-9f9ab40088dd CLINVAR:449509 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 548acc84-8dec-4862-a46a-f866c5ae7daa CLINVAR:449509 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 428f9002-e710-486c-8483-6e382b014e47 CLINVAR:9888 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f688f7a0-0871-417a-afd1-23d3bac1adfb CLINVAR:9888 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f763f432-f8d2-4f1a-a4c8-0e5bce80fda6 CAID:CA412372976 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 011fa434-adf7-48dc-8f68-1410f2ccad2f CAID:CA412372976 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 440648dd-27d6-4a97-b0aa-a579fcfc0730 CAID:CA412376053 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb7ad186-8865-4858-9c78-663a28ab884e CAID:CA412376053 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c3cb3b7-2425-43a4-bf21-1e0cbfe05acd CLINVAR:1419115 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 714bb81a-cf5f-4f4d-b1d2-02264f0a4740 CLINVAR:1419115 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1434bb52-5444-4af3-b771-262d7b349a4f CLINVAR:1687568 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70fdd583-020a-496b-9d4e-6442a108d74d CLINVAR:1687568 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcf9c8b4-58df-4af0-a90e-7b11a009403f CAID:CA2580650463 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b5491d7-141c-428c-a58a-c1a12dbf04a9 CAID:CA2580650463 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbece575-9765-41d6-8851-15f9f41677b8 CAID:CA2695231369 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 429889e3-fd3f-4647-ade5-9a73c665fc42 CAID:CA2695231369 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3746944-722e-48f7-8c4f-2df6ad1cf431 CLINVAR:99022 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7ba9cb82-bf15-4d96-bdf6-7e269f21b8a1 CLINVAR:99022 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28ef2092-150c-4b72-99ac-6ca288f36044 CLINVAR:99021 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d86a24a5-00aa-46d7-b367-379160a4dbdc CLINVAR:99021 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0183337-c1d9-4f81-aa9b-e45559ab988d CLINVAR:99020 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5aa80ad9-24f9-40e7-8a97-b9a274e6e538 CLINVAR:99020 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e84422bb-4fbb-467c-a862-ab41e4321d70 CLINVAR:1063524 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e7015ba-55fc-4c95-9668-e08e9d7393dc CLINVAR:1063524 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c6158af-6138-4f68-8375-4a936ae9403c CLINVAR:1048161 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 060ab430-70be-4db0-a5f7-e698b1669df6 CLINVAR:1048161 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4cb8c6b-2e73-4c99-8c28-89b8ee6c3f15 CLINVAR:1421996 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b74f9c1-4474-4b33-a872-1a637c4e82da CLINVAR:1421996 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5da04f2-9509-415f-81b1-e31cd08e3fb0 CLINVAR:98946 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d080730a-a0da-4b63-b0c0-e91394f806f0 CLINVAR:98946 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09e81210-65bf-4e81-8af3-f1b793948670 CLINVAR:98944 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 799b6bd9-dfe9-4120-8ce2-8663e364bf11 CLINVAR:98944 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9c9ccd3-e8d4-4c65-af90-aeb242a68c9d CAID:CA2695231613 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74e06113-749e-4012-8dd9-1ebd68518787 CAID:CA2695231613 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a239b6fa-0148-4b09-92e5-eba6eeed51ab CLINVAR:488837 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3dea1c8d-4724-49be-89e8-c7cc6f1a55a0 CLINVAR:488837 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eb3aea2-6c4c-4f00-81cf-fe9cc4f03d1a CLINVAR:555986 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8263da78-678c-481d-bd83-e2830117adcb CLINVAR:555986 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9ba4540-d8c5-43bc-a51d-a46979b92b85 CLINVAR:501793 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d68bac14-2ebf-467e-bf06-e4b728a37a04 CLINVAR:501793 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 569f2d1d-105b-4007-8701-98fb6e9e75bc CLINVAR:2160730 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4269a0e-27c0-41b0-aafe-9fd2e5bacfc5 CLINVAR:2160730 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03d8acea-e39c-497c-83aa-c52adb11bdd2 CLINVAR:571521 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2625659d-eddf-41c0-a6a0-887fd55ec64a CLINVAR:571521 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 773782f0-039f-42d0-8eb5-fc3ee6ea0753 CLINVAR:281056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 912fbf06-fbd6-4213-996b-8572928061cb CLINVAR:281056 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d946ce-692d-4f9e-a6ee-7d858eed79ff CAID:CA913187388 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39bcb1c7-2e7e-44bb-97cc-c894e614d129 CAID:CA913187388 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9097818-50ef-4966-a31d-4ab5a4fdea1e CLINVAR:98732 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0f98324d-b711-486f-9fa4-4ac13572f6b9 CLINVAR:98732 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 705bb1cf-8af5-4553-9715-d6f28b7ebd85 CLINVAR:236481 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fd7019a9-998b-4755-b4f6-8357dcc49fbe CLINVAR:236481 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96f4931c-8985-4fb8-9bc9-2b2987d9728c CLINVAR:92858 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1cea0b89-78bf-4186-b7ec-b4b744daff72 CLINVAR:92858 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0e5eb26-c10a-4e39-978a-f453736cf35b CLINVAR:98796 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7377064-64a5-4c86-a450-c196fda6ad90 CLINVAR:98796 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f3968e2-787c-4f04-bcbf-a242a1e9c5a1 CLINVAR:1317013 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0add4418-d514-4fb4-8abe-fad09fd69a49 CLINVAR:1317013 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a38bda3-8389-4c2a-9218-93e49b295e60 CLINVAR:143094 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d284f095-1078-42fd-82cf-e97e04237b59 CLINVAR:143094 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 346e5b70-cfd9-4589-9094-482866d1a3ca CLINVAR:1213923 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen adb53a26-95b9-47f6-87fa-b977403d48f0 CLINVAR:1213923 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9355e5aa-4e6c-4d4e-adc1-94b1d57a8656 CLINVAR:236483 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1831a02a-2edf-4d72-acff-6beb4dc6ba22 CLINVAR:236483 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 011ff255-8611-446f-b0c5-5ff8b375fa51 CLINVAR:9899 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f1db963-1225-4112-9931-6e0fe66a35b8 CLINVAR:9899 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23242ebb-e863-4be9-bbb7-2e8758f81916 CLINVAR:98802 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57aad7e2-9f86-4d2b-ace3-13bc4495918e CLINVAR:98802 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bfa2918-3e9e-4d8b-af77-86fe4d1e54ca CLINVAR:198414 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d679c8ab-fb25-4fc8-ba8c-fd6ee1be7d4c CLINVAR:198414 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77c6a64a-c52d-420f-8402-3165ddcdbba0 CLINVAR:449508 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e5286a5a-798f-4351-bb66-8bf71c17845d CLINVAR:449508 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd45db3-6828-4cd8-bf20-cd90aec70769 CLINVAR:1497214 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a51042c8-50ee-4901-b89b-0b0bb7ad1349 CLINVAR:1497214 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb64d057-cd75-4466-841b-712f7b0f6472 CLINVAR:812421 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d78a176a-88a4-4385-ae7e-68d0a6f7e51c CLINVAR:812421 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4741c34a-4fa7-46c1-8075-19ce9934482a CLINVAR:636203 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 729517ba-44ab-44f7-a4a7-6f0f51e5a104 CLINVAR:636203 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 827257b5-211a-4761-aa74-11d506a5a78d CLINVAR:9897 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18eafcd3-9c30-4a59-a517-a34934699926 CLINVAR:9897 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8571bfe3-bf9b-4619-8225-7881633ec864 CLINVAR:813227 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09534817-94a7-4101-9730-0a689a6722e4 CLINVAR:813227 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e051fd17-99df-4a23-b72f-3bb09f7adbe8 CAID:CA412725852 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 839e8a74-c2eb-44e1-b9b6-7d7938edc694 CAID:CA412725852 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4b20d2f-1e72-40aa-abca-fc909cdf13db CLINVAR:931960 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f28f2af-68cf-425e-8b32-7413fc7a6c8e CLINVAR:931960 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 621ccdb6-e2d6-4ec2-8820-b7fe6cc2e927 CLINVAR:1012373 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fdc14a7-4925-403d-a14c-19bf3c352d66 CLINVAR:1012373 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ecb1a37-0d55-4dc5-8cb1-836a0cef94ae CLINVAR:810564 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23bcbeed-23f8-41b4-8b43-9328b61cf37e CLINVAR:810564 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 404724ad-a15d-4878-8262-b6470e0af0c8 CLINVAR:280089 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1aa185e2-db57-4228-9ace-a8e3004e5984 CLINVAR:280089 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e64e9452-d8ba-4ef3-ab76-16ff9f3ec111 CLINVAR:1356123 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 871edb05-a09f-48f6-98c3-4d4f33be04f6 CLINVAR:1356123 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd5dbcb5-add8-47a0-95f5-592719d9ecac CLINVAR:867211 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 462a394f-cf01-4858-bada-1837898cc867 CLINVAR:867211 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 508faf85-e5b7-4bb8-a3e2-895beb927a51 CLINVAR:3028605 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f1b5d8f8-6653-4b6d-b619-c554966460a3 CLINVAR:3028605 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43879be1-ca2d-4523-b079-0e28dfb2e9ac CLINVAR:1048123 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f9dd32ab-3e5b-4408-9331-c382a3d138c3 CLINVAR:1048123 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9a08d6b-8029-4e60-aef2-2f7181332c0b CLINVAR:1172696 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3623f928-394d-48aa-b0d9-df2c755c4048 CLINVAR:1172696 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e4cf35-7722-47e5-87b1-05b513f83f2f CLINVAR:91389 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27c61509-01f7-450d-931c-12378e53e4a9 CLINVAR:91389 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d56d5c22-2a7e-4bf6-a27b-e3be682b699d CLINVAR:438142 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c320513d-c7b1-44c0-8332-cb61007b7060 CLINVAR:438142 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7b4585b-a9b3-4337-ad23-950d3844067c CLINVAR:866109 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84893a2d-b076-49c5-90a5-95cae846d94d CLINVAR:866109 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71fa6bc4-cc79-4416-9a67-274da0a4e7b0 CLINVAR:9902 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c03590dc-6d21-42eb-8ee0-ffe26002e1b7 CLINVAR:9902 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b81d4ba-9f97-4ea5-a936-5709a4c62185 CLINVAR:642531 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ac887a8d-3ff0-45f0-969a-9cbf0e0365fd CLINVAR:642531 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 584da37e-c05c-4500-875c-14397e53ef19 CLINVAR:690133 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 857daed2-c4c6-4f29-a69a-28b8ce19fa70 CLINVAR:690133 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f05ad4a-6c3d-416d-96d8-d40b5cdf4018 CLINVAR:692855 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 73bebaf7-8862-4c33-9f39-7f31233aa43e CLINVAR:692855 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db8e5b00-a361-4298-bbd3-e86079975fbd CLINVAR:567566 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 103b9202-ee89-4081-a8ff-9184e2e332b3 CLINVAR:567566 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 657054a3-a872-4456-9e1c-645066ce1471 CLINVAR:1458772 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d430cb4-fd26-46ee-b326-303bd9c87f7a CLINVAR:1458772 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cf0bdc3-2b9f-4c5c-ba0e-6782e14a91e0 CLINVAR:193062 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d62a0e83-b34b-4005-bc8e-75ba6ada317b CLINVAR:193062 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 527afb03-8f5e-4ea5-acf5-415913461ecd CLINVAR:801086 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fba3925c-bb12-42ee-a018-4398310d5d72 CLINVAR:801086 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28acf3ae-3510-45e6-aa15-5cdf5d0f80c6 CLINVAR:125519 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c591be8-5a57-4682-b99b-2779c0d523d0 CLINVAR:125519 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a33b9a62-5c12-4ca5-9dd9-a5043272b01c CLINVAR:409353 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fce117f2-5ca4-44f5-8226-16238f84e0af CLINVAR:409353 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22ba8fbe-1e83-48d8-8e4d-a5026feab087 CLINVAR:631061 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb6d64d8-f801-4404-b935-d721847b42d5 CLINVAR:631061 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d731fc-8a28-4c2c-b9ea-42f349726d0c CLINVAR:441298 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 370ebaab-b445-43bb-9bb6-016a0e138f57 CLINVAR:441298 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9f5cc78-fe0c-4f1d-93b8-d9e10d8ca779 CLINVAR:230862 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e9f156f5-bf47-45d3-9ced-61c271af583e CLINVAR:230862 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccefad7f-f624-4ad8-9531-b9f7b10a5597 CLINVAR:142617 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1ae082b-e1a9-4297-87e8-3eb2112e7fc8 CLINVAR:142617 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4b54b74-a007-471e-adc7-879d27cd3cbc CLINVAR:568479 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c430fed1-68fd-400f-a7d4-915366b411da CLINVAR:568479 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44903d87-b825-41f0-bfb2-6af8a0f2f1d3 CLINVAR:531302 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fc6dde6-b7ab-4044-84e9-9f1b1bb657fb CLINVAR:531302 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3555fbbb-a64f-4667-8e61-9ecd8bc5108f CLINVAR:125777 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf22cb69-c67d-4665-880f-86fbf9ef92da CLINVAR:125777 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36ba659b-32a8-4ec3-ab46-0388968380a9 CLINVAR:483130 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7fd2f189-a642-47a9-8eaa-24c1963289aa CLINVAR:483130 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a43ed72a-27ef-4d12-b4b9-41bb42ba5d34 CLINVAR:927378 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ee1a27c5-5470-448e-a8dc-363674d1556b CLINVAR:927378 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6b2a935-a67b-4368-9cb6-b636f11a468a CLINVAR:656566 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d85a41fd-a2f7-4973-954e-52b0adffc886 CLINVAR:656566 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54d2590a-d153-4c2a-a292-3bf01f3e4732 CLINVAR:96950 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10d7f51f-903a-4a10-90af-3e115d0cf551 CLINVAR:96950 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00a37a61-fbd9-4e27-a1a2-678a4704b27b CLINVAR:55383 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c99f5eaa-c372-45cc-b525-023352f5c662 CLINVAR:55383 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88b8fd48-8999-4307-b152-6d2aba9e501a CLINVAR:232955 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09684fd6-106e-4e1e-88e4-f0123d2ca310 CLINVAR:232955 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adcde594-db51-4a04-b425-5c8c682afa99 CLINVAR:575178 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99eb909c-80ba-47f8-aea9-a263a3d2eec4 CLINVAR:575178 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc820ea7-571f-4dab-bd2d-55d1eee9c9c1 CLINVAR:438744 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7fe046ae-caf6-4eb6-beae-4fa0c292b755 CLINVAR:438744 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6db51dae-873d-470b-a466-a445d2658746 CLINVAR:551563 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0c191bab-ee33-4b49-b0ee-f199f1036bc1 CLINVAR:551563 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f112a81-a397-46fe-87c2-ca9e10fc8a7e CLINVAR:3233261 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 19475c06-da93-4e7a-b784-36329674a711 CLINVAR:3233261 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88ce413f-ad89-45d8-b2ef-fc1bce273cb7 CLINVAR:3906899 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64ab625c-3a6d-4389-8d5a-2d4e726a47ea CLINVAR:3906899 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3ede2ef-f4b3-466a-a74f-826ade7f6016 CLINVAR:2498386 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08db9555-61b3-463e-9dfb-1b775ff80f20 CLINVAR:2498386 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e361a520-6a21-44b8-b135-a01d7eef31d4 CLINVAR:474890 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ae7c446-77e2-4a56-9647-3804a3fc9065 CLINVAR:474890 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f35eb34-d2a7-4a40-9717-4af2bb82779f CLINVAR:693726 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ece33fd-3ea5-4b55-a7b9-d7023d636ab1 CLINVAR:693726 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b176a8-308e-40c4-8355-0d61891a33cb CLINVAR:3900732 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 23c1c875-88e2-409e-b474-e88ad82cc33d CLINVAR:3900732 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f808c146-9391-41bb-be03-3351c20d7662 CLINVAR:693057 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b6952a39-c5ed-4c7b-859c-a05c8dad8830 CLINVAR:693057 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97a2661d-71e0-4eb1-8bb0-0bed584d1128 CLINVAR:9584 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 248221a5-97b1-4529-9aa0-d18706e5f9d7 CLINVAR:9584 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68081358-d7e5-4151-a3e1-e9c6409660a1 CLINVAR:2716683 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1c94628-3f0c-403b-b510-ea924c210bf8 CLINVAR:2716683 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1db6fc61-6f3e-45ac-8bca-98f0ab99def2 CLINVAR:3063964 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f3e5f80d-cf7d-4e31-93d6-d02b957e757b CLINVAR:3063964 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad086706-53e9-46c1-9904-a4e7b4a8f422 CAID:CA409108099 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05eff3f9-15dd-4205-96e4-520340e08426 CAID:CA409108099 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8e6a004-62a4-4aa9-a3ff-64468527f067 CAID:CA9870403 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e68e7b3-017e-478c-9c19-991a8700b6e0 CAID:CA9870403 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c122148-b4ec-48f4-bd0f-4c8c7d4fc49f CAID:CA409109838 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 946619d0-5f36-4344-90bb-1c54f388a48c CAID:CA409109838 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebe52a42-2509-456f-872b-18d255d77f2d CAID:CA367400174 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 00c27688-5ac0-4a55-bf3c-54124444d85a CAID:CA367400174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a22093-20c0-4fdd-a990-d54372cf3623 CLINVAR:1705456 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9f6be33b-3fca-4741-aaae-c80e5632b247 CLINVAR:1705456 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a241c37-6733-40a7-b152-ab5bbd779b87 CLINVAR:36268 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f1ec97b-bec0-4756-8593-3d6976a96c20 CLINVAR:36268 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e52d7358-a710-4b59-8c99-f6e8ec659a53 CLINVAR:804853 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ca91e77-8004-4a92-a789-b14a6957ffa2 CLINVAR:804853 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdf52b55-87d6-4a19-a53c-2076d143741a CAID:CA2837995533 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 660b616b-7d23-4f54-8aae-37d4872ae432 CAID:CA2837995533 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8047318d-c9f0-4a75-b175-3fb9d62cfb5f CAID:CA2850445536 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95d76664-bee8-47b9-8e93-a40ac9e463df CAID:CA2850445536 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen accc2559-48ec-4f5b-80df-03387b81370b CLINVAR:1691363 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c672e40c-0a0d-4db7-acfa-e6a612067f51 CLINVAR:1691363 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2609e1c-af73-419f-9125-1e4d7234302b CLINVAR:36168 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e71df87f-5e66-4df7-9886-26baba739282 CLINVAR:36168 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ab2a930-6e94-429b-a1e8-792d216c7b86 CLINVAR:36179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b8c893e-deea-4cc2-b018-6a292c29a4f3 CLINVAR:36179 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a346b38d-3b9c-4100-9d75-4a9640ef045c CAID:CA367398715 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 871ffadd-351d-406f-b468-7e0a97574f45 CAID:CA367398715 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01333b6b-e0ab-4f8c-9b9a-9b01dc83f637 CAID:CA367398710 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b0286938-c5d0-4b68-84f6-948441c4c85a CAID:CA367398710 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 933d6433-13ec-4514-ba04-25c78daed5bd CLINVAR:982610 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57c19b19-463c-4e47-bfa8-5e62c986bf4d CLINVAR:982610 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f86f11-a1d2-4496-a95b-4467edeccb8d CLINVAR:618728 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4052c0e5-d7cb-406b-9270-7f9236232ed3 CLINVAR:618728 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd0187db-dac6-4ddb-9fb9-59910877f41c CLINVAR:618217 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d488879e-be00-4123-a49c-b2e2b1986de1 CLINVAR:618217 biolink:is_sequence_variant_of HGNC:7460 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7acc4903-fd26-4679-b6e5-aef87145a9c3 CLINVAR:377340 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e98aa40-52c4-4353-9788-dc6a63016e41 CLINVAR:377340 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 734dada7-ee11-4da3-8843-8af09c65eedf CLINVAR:618720 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06865bd8-b371-45d9-b519-98ee18e82737 CLINVAR:618720 biolink:is_sequence_variant_of HGNC:7415 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50be5b36-ad0b-4e4f-8d14-92005d01052b CLINVAR:465208 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e4427d3-2266-40e1-b540-f937b5857564 CLINVAR:465208 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11c8d0ed-6387-479b-a45b-b75536aa448b CLINVAR:9582 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0588ff04-3505-4839-86b1-57f6af58638b CLINVAR:9582 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27fdca2d-eb6a-4ce0-976f-b4ccdf0f9dd1 CLINVAR:252021 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13cf50a3-7575-48bd-a88b-46cd8b2db657 CLINVAR:252021 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c75ffe-eab6-4908-b7d2-033ff03a7c6e CLINVAR:252052 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 060e6d8a-cefd-4e4f-8b5b-40cef60a0e35 CLINVAR:252052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0837c01-390d-437e-a072-da0afdd7ef1a CLINVAR:1171684 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5b4816e9-f5af-4783-9532-3d8c23408db7 CLINVAR:1171684 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13e184cb-ca0a-4950-82d4-6dcfa5ea8a1b CLINVAR:9652 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 687dc9fd-ab89-4842-b2b2-6f86fc668768 CLINVAR:9652 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen badbddb1-448a-49c2-836b-d470407cb247 CLINVAR:235260 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7531ed0-26a0-4225-b880-036eb4fae91a CLINVAR:235260 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d1902a2-df5d-4b8c-8c10-5528a45d25a6 CLINVAR:254354 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 929217ac-669e-424c-8f05-b9ac5bedb438 CLINVAR:254354 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dae152d0-b97a-4a0f-9e2a-a5ff454e1035 CLINVAR:692346 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ca16211-b3f2-45a0-8465-bcd86b9acecc CLINVAR:692346 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12a0babf-44b7-4345-9031-6d59215bafd2 CLINVAR:933083 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1fc4b744-590b-4688-b547-7131d1defe7d CLINVAR:933083 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57ca2c95-f572-4563-8f9c-a462f4f73027 CLINVAR:933091 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e50694f2-8674-49ba-aa40-23c92564f29a CLINVAR:933091 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c114e20b-c765-4ea7-bbe4-b34461296be9 CLINVAR:933010 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dea297d0-ca40-4094-8981-5ea6c9c7c604 CLINVAR:933010 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85606a1f-f672-4745-9f2a-4607b40edb72 CLINVAR:9721 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ae2358a5-f921-415d-b05f-8c96e85fb84a CLINVAR:9721 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a8e2f07-77d0-47be-9742-f13688892fe6 CLINVAR:9699 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3311f8bb-f2e3-4534-b276-d3b3adddc0b8 CLINVAR:9699 biolink:is_sequence_variant_of HGNC:7456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdbacb2f-3e29-4e2f-ab96-ac1d5fb81ec7 CLINVAR:9704 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b203f5a2-58a0-4ffa-8768-5d7e2554de5b CLINVAR:9704 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88df2e69-7b7f-40b5-a073-53cf2c0df661 CLINVAR:1338262 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bbc86302-ca8c-423a-a6c3-9a6e40de4b1b CLINVAR:1338262 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edb679e9-b587-4c34-bd72-d1f3af8b74ec CLINVAR:224543 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 040eed5a-7d6e-4a7d-87d3-592e93f04ef1 CLINVAR:224543 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0675262-4b66-49c8-85bd-32a6ff0aaf3f CLINVAR:536548 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6296f063-c672-4160-8391-c5fb91d5dc3d CLINVAR:536548 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1a144a9-de2b-4bab-bc87-dbe1bb6279f4 CLINVAR:497201 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d668e272-4c30-40c2-8946-a61fdcd9ee3e CLINVAR:497201 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d3b98e5-b5a1-4c4e-9003-f404c348f7e4 CLINVAR:281505 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb387a4b-3cae-47f2-b3af-d97b5f5f50d8 CLINVAR:281505 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16d89f81-8870-469a-802a-28133135a3f6 CLINVAR:282494 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 238ec86d-2bc7-44f3-ab44-da1ce99b0b57 CLINVAR:282494 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b46ec63b-9e31-4a78-9c04-8e3d72b625e0 CLINVAR:282173 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3a6bc736-1d33-4b56-898a-99996523beff CLINVAR:282173 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b841f70-8634-4d6b-bdbd-a3c4581c8109 CLINVAR:194691 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d616d5d0-77bc-4f76-9ecd-1cfd06048f5b CLINVAR:194691 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b99d67e-ca00-4de2-9e0c-874f4ab0ce33 CLINVAR:283099 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 421b1162-5d42-44d2-b820-87e48e426a61 CLINVAR:283099 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73eade52-f470-4bc5-915b-5d251cf3fc60 CLINVAR:370730 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 34cdf0fd-af53-49c6-af2d-bc7184a7433b CLINVAR:370730 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8306dd4d-8300-494f-ac00-d98dee6ac0b4 CLINVAR:2441107 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80f8a85e-ea88-40f2-9114-6e39178659f9 CLINVAR:2441107 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8f3496b-9d40-4454-9418-cee764f59104 CLINVAR:498619 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94b2f9a2-2d9d-43bb-ae02-285ce2458ff6 CLINVAR:498619 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3f6f9a9-4aba-440f-ad54-d04a15812c39 CLINVAR:2674975 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8dba0741-f366-4be4-81d7-5e312fb11194 CLINVAR:2674975 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 746c2154-5343-4c7f-a963-3b1953f7d0ca CLINVAR:639814 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14cfb59f-1a73-4fe3-a429-1308bde08221 CLINVAR:639814 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81d02d2-f86f-4c63-9b8f-d07ae9aac30f CLINVAR:596644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bcc2ee95-8769-42dc-9139-4906fbf85ddb CLINVAR:596644 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af527399-37db-43c7-80e3-c692973535de CLINVAR:1685801 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen be08726a-0cc9-428d-97a6-ac79d093a085 CLINVAR:1685801 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8c363bd-d46d-4973-bc1f-e6a036f3287c CLINVAR:2136509 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79fc0f32-bd16-4e94-878f-1451c7ad249b CLINVAR:2136509 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6f13271-bbbe-4247-b3b7-7cb1ddd0afb0 CAID:CA367398723 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2184019-6373-44e9-8fe0-1a9d26b98ad8 CAID:CA367398723 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 843f97b8-2782-444d-a293-3ef331b219e8 CLINVAR:995100 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9daf538f-8c86-4f67-8d3e-a8b88e3a88b8 CLINVAR:995100 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d907ce26-ac29-4a87-b912-c834136c541d CLINVAR:1734018 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3067252a-0705-4c9d-890e-45b3031b9430 CLINVAR:1734018 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 420fcd4f-6f46-4180-a895-70273e2db0c1 CLINVAR:804836 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fdd80963-f46c-4b5f-b7c3-cce3962eebc7 CLINVAR:804836 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d88d05c-d29f-4257-a5b7-ed115115b91e CAID:CA355962322 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9998042-0ee4-427c-b691-a95e5e4e7ad1 CAID:CA355962322 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 329547bd-c1b2-4529-8c20-aab8c7d6eb23 CLINVAR:1468875 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 38097a92-46e7-4688-8344-49030386ab67 CLINVAR:1468875 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f9d821f-c4eb-4d7c-9eab-ffee13c517b5 CLINVAR:496834 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a64cd2c0-de55-46d7-b0f6-b5fd00b58d3f CLINVAR:496834 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de2839f0-0495-4a44-86ab-6e451059341f CLINVAR:280976 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48bd772f-72c9-490f-8716-86d3d62854c3 CLINVAR:280976 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f50bf511-8699-40b3-8db3-e964015611ad CLINVAR:2152483 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d31c9b61-f8e7-4c33-923d-c2fad223c37e CLINVAR:2152483 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db250ba3-2f8c-41ef-af96-00751e06f9ff CLINVAR:222996 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1dd83eb-2a48-446d-aa0b-0c5427acd9c6 CLINVAR:222996 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41b3d247-1af7-44a6-855a-34645d104674 CLINVAR:286242 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 85364181-bcad-4bc0-be0d-fbe2421452c5 CLINVAR:286242 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c691083-85e0-45ce-9629-236907dd9007 CLINVAR:950889 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53afe0bf-4838-4891-a56e-5faa8737cd64 CLINVAR:950889 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62268b64-4935-4562-9f84-46e4e6083b6b CLINVAR:550799 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad36a5df-7262-444e-9218-93408356477d CLINVAR:550799 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da81cd37-cfb9-4a19-a7a5-b01067487aae CLINVAR:265418 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d9aaec7f-4c35-4874-acda-7a1bd1a9d705 CLINVAR:265418 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 824be255-6242-46a3-a762-2f546c4daa84 CLINVAR:652306 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 84e50b17-8919-4b6c-8762-1f0440bda7ca CLINVAR:652306 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23b84cfc-2435-43c3-ad81-03315042b9f4 CLINVAR:553173 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 66b9e38e-dd1c-4789-9cf1-4c4c3e731e9a CLINVAR:618502 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87d6ed07-168b-48ca-a3f4-ab9a8097735e CLINVAR:618502 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a341843a-2bf3-4bb9-b934-69d11bfd773a CLINVAR:474879 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0dde60cc-2609-4cbe-9112-cf8946ba9405 CLINVAR:474879 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d33474b6-4866-412c-bcbf-46ac10aa27d0 CLINVAR:639569 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fe683992-82e6-46b1-bc5c-b99b211d3d6c CLINVAR:639569 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 265e5b59-b540-4923-8845-3df257c33cf6 CLINVAR:383542 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6232c58a-c5ed-444d-9924-fe21c77566ea CLINVAR:383542 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba24760d-5241-4577-84e2-71626c990319 CLINVAR:1942331 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 83fb7ff1-dc9f-4364-8d6d-ab599512b9d7 CLINVAR:1047359 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 334cd82c-eac0-45fb-b6db-1cca287345f9 CLINVAR:552081 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1ac7954-7219-4430-bdba-db79cdc4d448 CLINVAR:970368 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bde58909-7c93-44ad-ba47-f4f134355fba CLINVAR:558632 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 28e81f9d-9132-4de0-be2e-56adff5313cb CLINVAR:558632 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e961a826-ec10-4daa-ad7b-4bcb301618dd CLINVAR:556949 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ab3cb70-03b3-4307-8d16-81a895b91305 CLINVAR:226361 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d262934a-188c-4d20-b188-313c1fbebae8 CLINVAR:226361 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14dff96c-cf6b-4c12-965a-8cfa8b0667e6 CLINVAR:3073518 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e06d76c7-1289-45f2-915f-68376c36028a CLINVAR:3073518 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c06c4c2d-ae01-446d-90e6-8ed7bc306be6 CLINVAR:251855 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65644555-4574-4123-8520-676ffd1548dd CLINVAR:251855 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7125d54-767d-4e20-92ae-e93ec12ebb89 CLINVAR:328055 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0c90167-968e-4bcc-9c48-2b3cc3525f1c CLINVAR:328055 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff7dabf2-51f1-4448-891f-566b720ebb0f CLINVAR:375815 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82d61890-6699-488f-ace0-ba13e57c3540 CLINVAR:375815 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2152184-92bb-45da-93a0-abca0254ca36 CLINVAR:430690 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3acb2d87-fb30-49d9-ae4c-839a68bf7243 CLINVAR:430690 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26f2c203-7e1f-40f0-a715-71e61ee8ad1f CLINVAR:3758005 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3971bea-59b2-4eff-a1d0-7e3d1f960f99 CLINVAR:3758005 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 713a3c7f-a0c4-443a-8749-91a8f3116dd4 CLINVAR:98851 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 449b2e82-b799-4c59-959c-2e7514874974 CLINVAR:98851 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13c7e379-7fe8-41fd-9ac0-f9b361dd0e21 CLINVAR:2202769 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f03c8d68-8d83-457c-812e-9efbff399682 CLINVAR:2202769 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11eeb686-2f71-4339-bb23-7638ce5ae48b CLINVAR:973961 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 14ecfbc0-c2f4-4abe-ba77-81a74ff0436e CLINVAR:973961 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f92fb415-5d8f-41b3-9952-ed0b202576df CAID:CA340740587 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b14266d-976f-4a61-85c8-f7ae2be1a46c CAID:CA340740587 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baa38249-4694-4030-88cd-443117c2b92a CAID:CA2586966740 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a9be1c22-5d45-4092-b083-5619d3f0511f CAID:CA2586966740 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c4ff3da-6e99-426a-97c0-696190bc3916 CLINVAR:801494 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c335d4b-a6a0-49fa-9e56-8126666c1ec8 CLINVAR:801494 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5b629a5-8418-436e-9025-5d3499587d38 CLINVAR:98858 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6290bbd0-1020-42e3-9982-47dc7e90dadd CLINVAR:98858 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34270c94-3eb9-4c67-9241-7dd945ffc8c0 CLINVAR:98864 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5a1ca8d6-46af-4728-830a-a3b776a01b94 CLINVAR:98864 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23ee2852-ba49-4b1e-9509-4518e5082294 CLINVAR:978980 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49693286-42b2-4aa1-99a9-d8e678fef7ec CLINVAR:978980 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed7bda4-6e10-4fc5-ae98-d998b5feed14 CLINVAR:9661 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 50d3ee8e-d027-4033-83d2-d9439ad24b57 CLINVAR:9661 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 496d88cb-cb2c-4966-8b51-f65ac4f9c496 CLINVAR:488349 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen efbc5ca9-cebb-4085-a85e-430112e6fe5b CLINVAR:488349 biolink:is_sequence_variant_of HGNC:7421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c2a481f-6798-4514-a23c-901643bd1f82 CLINVAR:9655 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ca0abdd0-2bdf-43be-970f-a8fa199e794e CLINVAR:9655 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14eaac23-b94e-4f7e-93aa-e8edaeeabbab CLINVAR:805947 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2f3f5a40-58c5-48e8-b01c-14ffcaa599f0 CLINVAR:805947 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bae393a-c83a-4f96-b117-9dc1c094f817 CLINVAR:252192 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0d5fae6-9c5c-4c6f-a70a-b2555ec1178c CLINVAR:252192 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b36f8f5d-d50f-443c-baed-55abe49a00fe CAID:CA404093661 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0b9c40f4-5bd8-49aa-bc70-a07b77da83ff CAID:CA404093661 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0262f0dc-866e-4f14-bf56-4f532cdaaf3c CLINVAR:1785078 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1253ae62-2129-4675-94c4-aa07ca941884 CLINVAR:1785078 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ef8d19-ce79-4431-9949-edc1e306bfad CLINVAR:328052 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 45916bf4-4c75-44e6-beca-e0d80347e39f CLINVAR:328052 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 144c3a5f-dc1e-4905-aad3-2128599278e1 CAID:CA399791662 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d02319d-5773-451e-9557-6eec864c5240 CAID:CA399791662 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af9cf3ee-314c-4d3c-84df-0cfb5c28738e CAID:CA400022022 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf4eb75a-8b24-4a66-9887-c8b9523f17d0 CAID:CA400022022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d6385a-fba5-4a55-b7ab-7590208411f5 CAID:CA658760377 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0cff46f3-da0a-485f-9280-0eb004254c74 CAID:CA658760377 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0243af2-1b1c-4daa-b7a2-71bc48ed7f2c CLINVAR:2734558 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aea5043e-7d5b-4a61-a831-2d32098aa6ef CLINVAR:2734558 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e022ed4-974c-41a7-ab71-cc8c6e30ab54 CAID:CA2695224143 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen beeb2712-fcce-4043-8da8-e692925a8f2e CAID:CA2695224143 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16f8890f-c453-4367-b7b3-bcd8b5c896f6 CAID:CA410677562 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf425815-7580-4b09-9aeb-ae7de2f115b7 CAID:CA410677562 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 152a6048-c978-40e6-9ece-dd83da1bf7b1 CAID:CA410677579 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 374bfdb5-1b20-4ec5-ab13-afe20aa2f5d7 CAID:CA410677579 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b4ceb12-79c9-48fe-9166-762611c0345b CLINVAR:246082 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c248b7d-35a9-48e1-842b-a2d0bda01dec CLINVAR:246082 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba95223f-a517-4436-9360-03d4bdd028a0 CLINVAR:158515 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60810fd1-bd24-4b7e-84d6-2c95d367d8f4 CLINVAR:158515 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0adb966-8bea-4619-b36b-8db27468e64f CLINVAR:158514 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6975dcf-f655-4fec-afce-68f1af957361 CLINVAR:158514 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93849486-6b52-47cc-ac97-6297613bd2ce CLINVAR:92677 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5238a68a-09f2-43ba-ba01-aa2da2b90727 CLINVAR:92677 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d04351aa-119d-4e0c-86d4-918a1f5b9fdf CLINVAR:451052 biolink:genetically_associated_with MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c7c3f6f-9460-45d5-9bd0-d4585cdcf54e CLINVAR:451052 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2be1bc4-99a5-4296-8ad1-c5bdda1111f1 CLINVAR:235402 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b85c068-19d2-4b2f-8b2a-08113df1f0c8 CLINVAR:235402 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09c583a7-4188-4a49-b6f2-a76fadf83858 CLINVAR:642798 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2385cfba-7576-4fea-9743-ad6b9322d283 CLINVAR:642798 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca1b938-176a-43c8-b3ae-f260fc192a6b CLINVAR:100279 biolink:genetically_associated_with MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 76f6e25d-1f9a-4949-9d5e-47b0ecd1cab2 CLINVAR:100279 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccb6494d-1bac-4f04-b7a7-a742f983e488 CLINVAR:132994 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e11c8ec-2531-4182-886a-e697f9a1044f CLINVAR:132994 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eae67d22-261a-4d67-9032-e76d1928b8be CAID:CA2580612111 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 95782a71-6407-4390-a121-ec0c4d95bc21 CAID:CA2580612111 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22b1668e-0d56-433b-bd46-9b98936e6c54 CAID:CA386971688 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4313c86a-f25e-4f35-8e06-c1201b4d67cc CAID:CA386971688 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a425671-e821-43a1-bebf-8352b24a76e5 CAID:CA386966053 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8819ff6-ba92-4962-8c79-7d1868ab8079 CAID:CA386966053 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 668b65f0-04eb-444b-b8b6-6a70e9c2b5f6 CLINVAR:585930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 869160ea-bf95-4175-8cc2-c65aaa0f4821 CLINVAR:585930 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52ee80d0-7eca-43a2-8056-0d3f5ccc4c56 CLINVAR:3029101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53faf3e2-0ea3-4b67-9854-d7335bb35fc9 CLINVAR:3029101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 061607c4-c4e2-4264-89bc-9a09eaed7042 CLINVAR:804851 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a20e70e4-8f6e-4e67-8ad3-c77ed552f6f3 CLINVAR:804851 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0da22e51-f070-458f-a8d0-87cfabb4a5f1 CAID:CA2695203127 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcd0596f-c578-4571-820e-b6f93b733562 CAID:CA2695203127 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bb91779-aa0c-4b23-828e-d7c5ce7017ca CAID:CA367401109 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89484d22-3b82-4ecd-af54-348ef95ed1af CAID:CA367401109 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e31f4940-8f81-4188-8593-a67b3c8be258 CLINVAR:1803547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40189f7b-7632-4a85-b334-f64fa8a84f56 CLINVAR:1803547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c147d36c-a68d-4ca2-8f8c-2804a20bda32 CLINVAR:36258 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 78532845-2cb5-4136-9113-6cfb0a12279a CLINVAR:36258 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb789647-6dff-4389-81fa-be40d65952bc CLINVAR:161288 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f0276653-3ce3-4f5c-98ee-a97089741894 CLINVAR:161288 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13f0826c-455d-4dc1-a0a2-509e1c13498e CLINVAR:252061 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df55bbe0-bce0-45a1-a146-50db4c059bc1 CLINVAR:252061 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b62db46b-59d9-41a7-8e03-40bf81ce967a CLINVAR:440691 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 028c3b62-78b2-44ca-b365-337262b6641f CLINVAR:440691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9033add3-9620-4243-86b9-30f1e554a8f8 CLINVAR:630377 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d3876ba-81b1-4c23-9d34-fb644e04fd3c CLINVAR:630377 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b987629a-3042-4a07-9fc7-4b1ba6a623e1 CLINVAR:252015 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 323435b2-e3c3-454a-b30f-328d6bb2bacf CLINVAR:252015 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b471390-84ea-410f-98de-5a75f0dc10d9 CLINVAR:252172 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ced4f01-8151-4e42-a506-4fa838991dc7 CLINVAR:252172 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48759d39-2514-4e79-934a-a2149cc3a4b6 CLINVAR:922061 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eccb99a6-068b-42de-af1e-d230e34a5a6d CLINVAR:922061 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c87989a-f763-4fd4-99a4-e86ddecb47e0 CLINVAR:406165 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49373dcd-3502-467c-8acb-255677f17b0b CLINVAR:406165 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f9275ff-32f9-4145-baee-9ca1b3f8e577 CLINVAR:237872 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b78c8837-c1c7-498d-87e8-5685edfc20a5 CLINVAR:237872 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bf8120b-5007-40ed-b440-5f46496b4de4 CLINVAR:183085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 32ebb313-2a09-4a15-9e0a-9151b04f0315 CLINVAR:183085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b6559a6-1829-408d-b3ea-3c33580296fa CLINVAR:251857 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6725943d-331d-4b76-b05c-e9c34dda3d10 CLINVAR:251857 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1832db0-abc6-4c66-ad16-0ca137935732 CLINVAR:251858 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7b6d3b94-4d1e-4165-982f-1b2ce9adebbe CLINVAR:251858 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db14c02-bd3f-4c03-8d6b-a028bad26257 CLINVAR:251856 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d3a61b3d-6150-4803-b2f8-f886224fa6a5 CLINVAR:251856 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 114c859a-539d-48fe-b2bd-86a9ecbb2f78 CLINVAR:430776 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3ec70f31-1088-4c00-826d-7329e3810df2 CLINVAR:430776 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5463c1c-ef8b-4046-bdb9-69767291198e CLINVAR:251749 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6100aaca-5f2c-410d-80f8-5ba53f95ead4 CLINVAR:251749 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8faa43e9-f544-4ce3-8bbf-ae355af3119c CLINVAR:251748 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b337f1e5-8285-4361-be3b-2ceae5c1007d CLINVAR:251748 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c11bda4b-ae02-4e74-a969-5378d0d2feb3 CLINVAR:251750 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9476acd-dc09-425e-8207-7970ff910a6b CLINVAR:251750 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d6227be-aaf7-4ccb-bec6-9781d5ea374e CLINVAR:3620741 biolink:associated_with_increased_likelihood_of MONDO:0011058 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3d2a0b9b-3cd7-4781-9ec1-bb8f94075c12 CLINVAR:3620741 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aa9fa0b-b911-4fde-9c39-4788c2a58108 CLINVAR:143791 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1396fb9e-8034-4660-a3e2-eb7969ebce95 CLINVAR:143791 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e11a44a-4d72-4936-9fd5-715a7a3414e0 CLINVAR:156592 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d36a0200-dff8-450c-9721-f8645e14e87c CLINVAR:156592 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0508d3e-8297-4101-b643-4147c9ec2273 CLINVAR:208653 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb603896-f0e0-47f2-938a-474db7412a97 CLINVAR:208653 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a1a8d29-9cc7-4f96-bc94-7a7982a0ced4 CLINVAR:1648546 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 269bb619-6f15-4b86-a10b-14e8bdc98ca2 CLINVAR:1648546 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e5aae64-e2ed-44c1-b8ea-14111ade1f3f CLINVAR:143796 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3b5a460-e046-4e9b-81d8-ccad8cd59427 CLINVAR:143796 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1771045-8049-4026-900f-582406b502ad CLINVAR:143493 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f045ee95-d8e7-49d0-9a4c-f4eaec9ecb85 CLINVAR:143493 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26bc5b9-49cd-486f-8a9e-e4dad7e0b2a2 CLINVAR:2492678 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5734601-66e5-4ee3-b372-8b1a616f9a11 CLINVAR:2492678 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d56f1293-f38c-4915-a882-27daa8f3b285 CLINVAR:1144732 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94ba31b2-e539-4552-b15c-c3f6c8f4c39b CLINVAR:1144732 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 785eda3b-3643-48ab-b543-f2cedc644c8d CLINVAR:1911932 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 72f02b90-215f-4ec0-a068-c5fe86339f9f CLINVAR:1911932 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31260456-f4e4-46fc-8814-d5f4218bb407 CLINVAR:212376 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 61f0710a-ae30-48e0-aec3-4fd1b2ef5a56 CLINVAR:212376 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9be2354b-88b1-4dbe-b229-40b9ba49bedb CLINVAR:1164050 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26b6d117-fa47-4188-b7da-f2608f4766bf CLINVAR:1164050 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 902c8e3c-db2d-42bb-84b2-1f59d93e4f0c CLINVAR:973968 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 71d3bb28-43a9-48ba-a5ed-486e501b8397 CLINVAR:973968 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08863bee-ab30-42a8-919c-893efa8ae0a9 CLINVAR:98870 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e397d463-df58-4693-9b04-e968653307a1 CLINVAR:98870 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ab8eb91-220a-467f-bfd9-f44163d3a6d5 CLINVAR:98840 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94f54b47-4f10-4c31-bd49-d1b91be81e01 CLINVAR:98840 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37fedc9a-eb87-4c95-a316-0d2c34cac68b CLINVAR:973967 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 21b850be-4409-497b-87cf-4f5485b28b62 CLINVAR:973967 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e317dea-6bef-4a2b-a1d4-71af76566b9c CLINVAR:973956 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6ece4cb1-b6b8-4521-88bb-04f85013b639 CLINVAR:973956 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b3c1438-49e1-427a-9733-1cc363170cae CLINVAR:973965 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8c1e565-d306-4b23-b024-b100bd6e54ec CLINVAR:973965 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8085037b-5ecb-47db-bcff-68ad661770f8 CLINVAR:973966 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3087f647-a1cd-4447-89be-5480222a184c CLINVAR:973966 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12dc85fc-66ed-4fd9-9226-b7b04715dbec CLINVAR:98904 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6866230c-0ed9-4960-843f-453cb86b13bc CLINVAR:98904 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 469def15-629c-4c4e-a8ec-53c3e58d31cd CLINVAR:53031 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bfc1366-3d72-4aa6-90a9-c85f98e4504b CLINVAR:53031 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0da7a93-36b2-491c-95f1-6f2197fecb56 CLINVAR:3119 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 866884e1-d256-4056-8504-9b2c283f34d2 CLINVAR:3119 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36cb9842-5d24-4719-9c55-b64328342cbf CLINVAR:52955 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen afefcb8d-e2dc-48f4-81be-78d57ce9a6e1 CLINVAR:52955 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dfb7864-b8e6-453a-8386-7abab10b4e6a CLINVAR:3114 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ad77ec0-e476-4570-bcbb-f641343e8016 CLINVAR:3114 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac4fae41-97dd-4e88-b807-3686866bf7ca CLINVAR:191476 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 872594c1-3518-4472-aaca-1dd56694d1c7 CLINVAR:191476 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ee076f-0948-4623-a860-e51f37492859 CLINVAR:200877 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49b8af18-202e-4948-a0bc-bfb589ccc52d CLINVAR:200877 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2749a33a-5944-40b3-8991-42844ef54325 CLINVAR:67059 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88fad806-d63e-4626-b566-f03a323e9baf CLINVAR:67059 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59cfeb5c-e741-4554-8236-6eb4f73e76e6 CLINVAR:3128 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 59a117f5-d597-43d4-a373-78b96d397947 CLINVAR:3128 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4c1c0ef-9425-4c48-8e25-688422b05803 CLINVAR:53047 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c44fc14-825f-4a33-a190-99162cb05fe4 CLINVAR:53047 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 552b2ed8-b593-401e-b4ea-dc464bbf4c53 CLINVAR:67130 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 581de05b-1e57-4be4-8e88-1ea7ee56bcf0 CLINVAR:67130 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a38042d-c3ef-4676-94c2-b055a0b93e0c CLINVAR:219923 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fddc4bf2-0181-4c3d-a1cf-e3ccc099da65 CLINVAR:219923 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c64cfb39-ebf8-4185-bf07-26b3273ef4c1 CLINVAR:3140 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53eecc22-f59d-4b58-8260-3e56b3df035e CLINVAR:3140 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bb7ed77-a35f-4bf5-bbab-f12efef175d6 CLINVAR:53034 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2053b976-cc51-4695-b266-b4dae94a87ed CLINVAR:53034 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 891acb6d-cd96-478d-a097-6ede2c96f564 CLINVAR:53118 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 504b128e-3ea3-46d1-a87a-ee8643c9dfbe CLINVAR:53118 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c767721d-0852-4474-afa2-31237bb25780 CLINVAR:53083 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cbddb955-33d6-4ae1-be86-63c896951d2f CLINVAR:53083 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4e43da1-64de-4a56-9453-19c4476544ac CLINVAR:2124553 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68e16776-6b6e-4e55-b4c3-f7fbc336e5b2 CLINVAR:2124553 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77e7d0de-7c5d-4fb0-8a98-4278c570e2e6 CLINVAR:67027 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d89bcaff-b549-4f68-9683-921e99f89c63 CLINVAR:67027 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d2a7710-eb6f-4167-9bd6-04afc0dd4f21 CLINVAR:871729 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8cbbfbfd-9bb8-4730-8dfa-86cb543850ed CLINVAR:871729 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed0fbe0a-4655-47ed-ac27-492aa821949a CLINVAR:1950175 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 327c0efc-d566-4d8e-9b4f-ef44efb1f4d7 CLINVAR:1950175 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25eae2e4-1a91-40df-969f-4f9498108267 CLINVAR:3118 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c35181ed-93f2-4ba7-ad71-00c8dc00cbaa CLINVAR:3118 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4005b1db-1bb2-4cbf-94e6-3096384911cc CLINVAR:3135 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cafea603-3aa0-436d-b32f-fa0fc358c172 CLINVAR:3135 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3066973f-1f9b-4a8c-8043-722fb7eed334 CLINVAR:200874 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bafc68b3-0ed0-49f5-a517-c98a98c45b1b CLINVAR:200874 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d01b9a11-9c42-4fa8-8045-d871ed82c306 CLINVAR:3131 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a2f64dc3-0d73-4d63-b186-3daac1e7b97e CLINVAR:3131 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bd12684-40b1-48d7-869b-fa873c0a1827 CLINVAR:2683630 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13cec019-992f-4c2f-b1d6-ccbea0f2ff34 CLINVAR:2683630 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0a8e2b0-379a-4dcd-bafd-35e0eb5d0ba5 CLINVAR:4026 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24e4ab7d-ece1-40bf-bf17-ebac35043911 CLINVAR:4026 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e0c0b04-e6a5-482d-a849-8d1f58c69ff3 CLINVAR:1322950 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50123493-16e3-43ae-9a9f-fbae1ae75b04 CLINVAR:1322950 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fca3b6c-646b-4f4d-a94c-687089edb2e0 CLINVAR:1711447 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 04dc21ee-ae24-45fe-b6bb-96d2ec6f5341 CLINVAR:1711447 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c999e1a0-66df-49b4-ad11-c75460b0639d CLINVAR:3769497 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9fc23615-58a4-4081-986c-8170d4f07c55 CLINVAR:3769497 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc05085c-c89f-4eab-8cc7-be0d6577375d CLINVAR:3241650 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 173ef3a7-9691-4d92-b168-974bb21f3ca6 CLINVAR:3241650 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 998d200d-a39e-4a32-9963-8e5fde4d87e8 CLINVAR:456406 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d95bae9a-53e4-4a1f-a5e5-2026a888711b CLINVAR:456406 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c781e80a-1a7c-4d54-b508-0b1adb452702 CLINVAR:863657 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9813b4d2-daac-4c05-9def-0c363a683a28 CLINVAR:863657 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acaccea9-98b9-4565-9a4f-6d6e08d3c404 CLINVAR:690463 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b01eeef7-5630-4bb7-83e1-683a0565daf7 CLINVAR:690463 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c1492ad-1085-40cf-a661-4f74684967d1 CLINVAR:1713278 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c32e0a8d-6f27-42ba-81f5-bc7ef6e10baf CLINVAR:1713278 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da82ddc4-c7d6-4340-94d8-3f7e4c18e308 CLINVAR:2765748 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53d9ae42-edc0-40ba-a35a-1d81ce83d9de CLINVAR:2765748 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 743121d6-ef57-479f-bc69-acb3a82fa24c CLINVAR:2020494 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b646426d-afab-478c-8183-54b4e3639c29 CLINVAR:2020494 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bb8c8b1-f54a-412c-bb9c-7ec951a36981 CLINVAR:265521 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61c1fe10-c859-45f8-83f7-a437fbded609 CLINVAR:265521 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e70048be-471a-4679-8bb5-acb5555297f0 CLINVAR:217160 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41f27c71-f91c-4c7f-bc21-d5785a8f96a5 CLINVAR:217160 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7db162bb-59da-49f5-8869-71ab74bdde8f CLINVAR:500678 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2674e05f-43e1-4b0d-ae71-074cf5d7f465 CLINVAR:500678 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35a01abb-6acd-4b39-9542-82c62f411a5c CLINVAR:291078 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cb67aa88-fbb5-4741-84ad-b0991498c7d9 CLINVAR:291078 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fa63822-81a4-4a49-b635-18d68e9f6c79 CAID:CA3055620674 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 463caa88-cb1a-4a15-bd14-4d6d2f2dc753 CAID:CA3055620674 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0047a5b0-abd5-4298-adc0-b478ac421671 CLINVAR:94358 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 965b0acc-e5a2-4d3a-b8b2-61439c710397 CLINVAR:94358 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3186a268-63de-4ada-8264-b4393f322857 CLINVAR:94331 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f3d48368-0206-4806-96cb-96ef6827620c CLINVAR:94331 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93d6c2ed-0e85-42b2-9403-2f784a50afe2 CLINVAR:94366 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 073593be-5b9f-4ee8-95b2-ca5edcf4fa17 CLINVAR:94366 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c440fb5-1916-4b38-a936-75fc3a4df92b CAID:CA347219920 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a683ac99-fb31-4bc3-81d5-dc35a147378d CAID:CA347219920 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adcd8ee7-e7b9-4183-9e1f-107c3292e714 CLINVAR:1300184 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3fa58d55-525d-4c6e-9d78-0f89928c39a3 CLINVAR:1300184 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06feb963-7652-4130-b5f7-8643cd324fe9 CLINVAR:288833 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d10dc867-4723-45c7-880c-ce4cf27c5a7b CLINVAR:288833 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf3c6424-e5d9-4040-956f-a5a7bec13428 CLINVAR:3776168 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 013d897f-f6b6-440f-b571-a2b82525a056 CLINVAR:3776168 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f8ea6ae-c633-459c-9482-bb3d710c7b1a CLINVAR:553852 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa9dad77-7de0-4de0-9493-9b6c3e6d384c CLINVAR:553852 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c961cdc7-71f5-4a1f-963a-572021e14d8a CLINVAR:984123 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 58a84857-3858-4c2d-835b-799c2c219424 CLINVAR:984123 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71ede0c3-2d5f-4de6-84f9-42c0ebca5865 CLINVAR:498211 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8d4425a-cdcb-455a-86c4-c8a49f3d4dde CLINVAR:498211 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f392e7d-4f4e-40d7-812d-21997ddf6ab7 CLINVAR:496981 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d02ce9f2-0e15-42d6-965f-83aa13fcda33 CLINVAR:496981 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31444060-46ca-4382-9f98-e938ec373979 CLINVAR:285340 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ae3cba6-e756-4b9c-a0bb-2871c4d5c692 CLINVAR:285340 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c42f0e-188e-43a6-b386-f04c9de9e76b CLINVAR:9554 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27d43af8-1fef-439d-9e76-4b9d0042562d CLINVAR:9554 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5582ccf9-a1b4-4b57-8dac-48174a4544ba CLINVAR:9607 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0c4a65a4-a5f5-48ea-9405-b09d5e70c229 CLINVAR:9607 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db161d81-b759-4a30-8730-4580dcb8281b CLINVAR:127403 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf17f989-ff10-4caf-baea-2a3c6a23df90 CLINVAR:127403 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfa5709a-e499-43c2-97e2-b672960107b7 CLINVAR:524412 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c650dd9-736b-4e93-b105-1b9bf8a79817 CLINVAR:524412 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48057bdb-dd0f-44b9-9771-e7bc3ae9a768 CLINVAR:140897 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec437fbe-f5d6-4a03-86e7-31b82e57e923 CLINVAR:140897 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8a8a588-48e0-4e9f-a470-28baafaa1d1e CLINVAR:127340 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf94c7cc-871c-4011-96be-176cb7ba1815 CLINVAR:127340 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b56afbb-1c34-421a-bdc6-8b501812db33 CLINVAR:3022 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f4716be-53af-413b-be8e-5c2903a95769 CLINVAR:3022 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 438eb9d2-27bc-4ba3-b2cc-62729f7be5f1 CLINVAR:481101 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88b50e6b-c772-4e8c-b88d-bad4b48cb6f5 CLINVAR:481101 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97a14cab-b128-4d8f-aa33-e30033576e90 CAID:CA382516273 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f36fd812-fd16-49a9-aff1-11435a1c00da CAID:CA382516273 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32086b2c-8cbd-4b4b-b404-62ba919931c5 CLINVAR:232110 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c5e9e56-1635-459f-b836-e7d124533e61 CLINVAR:232110 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 755bc893-d93f-477d-a607-d71189310d27 CAID:CA2695215276 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28e1dee8-42b0-4f58-9a79-00a979140861 CAID:CA2695215276 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6078bcb8-f5c1-4b58-9d97-2c1174e7acaa CLINVAR:141325 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b57d0fbe-90ca-4d34-b19e-4248929ad3a8 CLINVAR:141325 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebccd329-126b-4a72-9795-2f80db28190f CAID:CA382539488 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41b7fb8c-fb37-4139-b202-931c687e5d77 CAID:CA382539488 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0f59a79-0b7a-407b-b8e7-91adfffbb578 CLINVAR:1023669 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f32e6e83-6f93-4967-85ca-ce4a859a4482 CLINVAR:1023669 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb217789-0e6d-421c-856d-07e17fe460ea CLINVAR:1018946 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6aee9adb-8133-4166-bf83-9b970d7e085f CLINVAR:1018946 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cd081e2-12a1-46c7-a052-842fb56a2462 CLINVAR:241562 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da214008-fb63-48b9-809e-581651351953 CLINVAR:241562 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 278ebd38-53c0-4f3c-a9ba-24b01942d7b4 CLINVAR:3791511 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56887edc-c5d4-4817-844b-dd51ba6ec952 CLINVAR:3791511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a5eb19e-aac6-4560-9078-8e195638e694 CLINVAR:3775902 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d92dfbd5-347d-4b1c-9a66-e2c554a5ef98 CLINVAR:3775902 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ebad9a9-7dc4-48d2-8d39-f55b8882ff61 CLINVAR:3791500 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0531b081-daf6-4447-9f96-c2f07e9c4fe6 CLINVAR:3791500 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bde2c8f9-da85-4867-892b-c97221cc5c79 CLINVAR:3791474 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff475cb2-b7f5-413a-99bb-1d1e60aff4b1 CLINVAR:3791474 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02044a05-bb54-4584-91e2-051f160f5dd5 CLINVAR:3791460 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43b6e143-4e6c-4f0f-b803-cd4aa3c24282 CLINVAR:3791460 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58da2218-b118-4f0a-9d52-c6fb0012e4a4 CLINVAR:3791461 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92438705-48bd-4970-a0f8-64e179ce3638 CLINVAR:3791461 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cb82e9e-8428-427e-9af8-b006720c2ee0 CLINVAR:3791517 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f02dc537-2823-43a0-821b-f3419f49585b CLINVAR:3791517 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd02cbd6-f0d8-44cd-94a0-74c9a06c30bd CLINVAR:3791488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d290fe0-26e3-453f-9a62-0c72ecc24898 CLINVAR:3791488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d547cd59-e167-49e2-9755-2d6d3e4a37a7 CLINVAR:3791480 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a1e4f16-c4cc-4099-97de-d6a0f3ed36f7 CLINVAR:3791480 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e52253ab-0ad3-44a9-bb06-121b602a9f56 CLINVAR:3791469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dcb5c380-2bb1-4dac-998e-581d71edc9ff CLINVAR:3791469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 113099dc-5199-4718-8db3-aa650419fe95 CLINVAR:3791478 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d4ed015-4b39-43ed-a12a-68bf8f2177ba CLINVAR:3791478 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 622877b9-8c5a-4a60-8f3a-87ec0993a2c5 CLINVAR:3791508 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77d74de6-9d86-4cd9-9190-ce55ea7a2738 CLINVAR:3791508 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bf9a720-6d5d-4067-98e3-445274db468d CLINVAR:3791502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dee8778f-b96f-4857-b403-71f039be62e1 CLINVAR:3791502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21342da8-f09b-44bf-ab77-156d91d0ba29 CLINVAR:3791498 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4dccc194-41cb-4854-aaaf-fb0d3c1f7621 CLINVAR:3791498 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec3a19c0-3e2e-4e16-9087-25c91b07eb8c CLINVAR:3791485 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e8c15b0-6b09-4a88-a235-bdfacf2c5176 CLINVAR:3791485 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5b5b94a-1815-4626-9be1-352339344383 CLINVAR:3791465 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fbaa9da0-65ed-45ac-a6b7-60de4f143026 CLINVAR:3791465 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f634c8-fd5b-48f4-b721-296b6e5d0bf7 CLINVAR:3791467 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ded17892-a92c-40c1-b86b-e8d0345a6f81 CLINVAR:3791467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 923539c2-9ecf-4174-b328-02ef01e556e4 CLINVAR:3791515 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 43fbb1e3-a0c6-4694-84bb-260a25471659 CLINVAR:3791515 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e09c0a4a-17a5-47d6-831c-7ae085161db5 CLINVAR:3791479 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9776d65d-c9a6-42f7-ac8f-e96df73a01ce CLINVAR:3791479 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b964c761-713f-40f5-aa52-33bab22b3396 CLINVAR:3791466 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0125d382-7517-4974-90d2-8e6041911919 CLINVAR:3791466 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57c01abe-6c08-4159-90a2-2d6e9af96bb8 CLINVAR:3791504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 750294c7-120c-42e4-96ea-e688bda404f5 CLINVAR:3791504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9d8a681-e9cb-43be-9550-61864a8e0335 CLINVAR:3791507 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e68c1861-725f-4b36-ab5c-da767b8090c1 CLINVAR:3791507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9999c96d-d867-4970-a617-56372ef570e4 CLINVAR:3791492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbb89456-4008-4aad-9b7b-003bf113660a CLINVAR:3791492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39f1d30d-1d58-4050-892b-1f7d313eee17 CLINVAR:3791468 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29100f5e-c56e-4f00-8491-a0af74bee66c CLINVAR:3791468 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1894fd5e-3a61-43ca-8d22-77195a7222dd CLINVAR:3791493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e1d4724f-a4e3-4dc7-be10-da379c9f5eea CLINVAR:3791493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2eece90-cf6e-4d37-9398-14ce6419c52c CLINVAR:3791487 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6cbde703-eb2f-4285-8de7-312e5d241010 CLINVAR:3791487 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32cfb268-c5ed-44c2-8414-40ce253746c5 CLINVAR:3791505 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0ecf7317-b2b7-41e2-81a0-2f4c0da26468 CLINVAR:3791505 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33dc6265-e0b0-413d-b4a8-6f20073c4ce3 CLINVAR:3791491 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa9e8cb9-0a26-4a33-8595-dcdff34a340b CLINVAR:3791491 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fa06c43-9dfe-4694-99e0-aa8f5881b304 CLINVAR:3791512 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bdc9820a-d504-407e-b307-f6b388b60e73 CLINVAR:3791512 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen def2e1b2-cd49-4157-ae01-6fda8f187acd CLINVAR:3791506 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a67e38f-5058-4661-9a3b-21c190b499e1 CLINVAR:3791506 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee008150-adc7-4799-abca-5f07f8f7971c CLINVAR:3791490 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6b279da-92f1-41b2-a18a-181d32a2d00a CLINVAR:3791490 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db9c7c4-1f71-4119-8cc9-2a234636e0ee CLINVAR:3791471 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 17ff6a6f-a241-4208-91fd-a1c031889963 CLINVAR:3791471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2eaa39-92e3-4e8d-b60c-e03876c4316e CLINVAR:1070970 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eab9a634-e43d-44e6-9ceb-bdd19fbe66f8 CLINVAR:1070970 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 471c9617-8efb-4023-94cd-8877f6179bae CLINVAR:837219 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 360d2a7f-7364-4d68-a0a0-9f1e4002d4d7 CLINVAR:837219 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f3264eb-e0cc-4bfe-accc-0c27233934ef CLINVAR:30007 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99d652fd-cbb7-423d-b5a1-d3795d19e5bd CLINVAR:30007 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 851b778a-b28b-430d-a0aa-11b34a6d476f CLINVAR:1177637 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d48f303b-c9fa-4f63-a07c-e62d9a565c47 CLINVAR:1177637 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27ee6b9b-82e9-41f1-a11f-ea5e7457f6f2 CLINVAR:4056142 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54205bdc-77f8-4849-a1cb-77702822af68 CLINVAR:4056142 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1fa5442-b33f-4bbd-8ea8-ffab7792f5e3 CLINVAR:1323100 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3fef2ba8-31b4-43e4-ba8f-005eced2b2d4 CLINVAR:1323100 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7e6893e-4bc2-42c4-85e0-44a0e16d0662 CLINVAR:550421 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d579d26b-9366-4157-b2d7-cfc045905b7e CLINVAR:550421 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 395dcd2b-dd01-4ff1-ad67-e7b490b28af9 CAID:CA16020727 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02c1c03f-551f-42bc-b086-6bf0619091b4 CAID:CA16020727 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c63938f2-785a-43a5-9713-9319b2530af4 CLINVAR:102617 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9026dba5-8bcb-4fb6-b7cc-063e6f61185e CLINVAR:102617 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e47ad2b-b81d-4d8b-bea1-fab73a29e062 CLINVAR:1514901 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8eb5eae0-c61e-4cec-a178-58ce41d565f4 CLINVAR:1514901 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa87064c-0f6a-4a58-b603-d0938117dbb9 CLINVAR:971992 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 09b4a221-6483-4d91-aaed-962368d57a04 CLINVAR:971992 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8830c66-1ce3-4ea4-8010-d37eabbdaff5 CLINVAR:663720 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a7928fa-c977-4c3f-9854-fa4de1ffc053 CLINVAR:663720 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9438deea-faa5-41b3-863c-bec43686de0f CLINVAR:929238 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 63a703e0-4650-4fa5-b2a3-5c303d615b4e CLINVAR:929238 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4202712f-7e7b-45df-80f3-635e8759e78f CLINVAR:1053808 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cb819bad-935e-4f7c-94f2-cdf946a91060 CLINVAR:1053808 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2d62e02-df7a-45fa-9941-9ac0f3343bb9 CAID:CA645372298 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 372bf4e7-9914-4c93-b696-bf84df204951 CAID:CA645372298 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c4ca591-19c5-491b-96df-77a647b44f27 CLINVAR:376616 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eeae6416-a146-454e-ae13-6c9c1e3603d7 CLINVAR:376616 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee117cfc-b0e1-4c40-858a-7e2a443ac45f CLINVAR:1408583 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 52acd913-966c-4152-a156-c4a2cab46f85 CLINVAR:1408583 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d0a0476-ab6d-4864-b827-0b259a1f16f4 CLINVAR:177879 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 16449e8a-d8bf-45f9-be9a-e595b7b511ff CLINVAR:177879 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf58cfb-20ca-438c-a39a-2bbf44deeaf4 CLINVAR:987878 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 47a7bd01-6cb4-4ed5-8ebe-1b173d08b1c1 CLINVAR:987878 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80ba33c8-c5c5-48b3-8925-f5f422474253 CLINVAR:142828 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb5ccc8e-d943-43fb-a3a1-30630c9cddbf CLINVAR:142828 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf4c3df2-acee-44f4-9ee4-be57a4607fed CLINVAR:237938 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3440f08f-b865-4b25-a136-2e8d33a80b95 CLINVAR:237938 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d56a4f91-7909-4769-9a63-993f1aa6e252 CLINVAR:142536 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dccdd9c9-696b-4f24-b76b-a09c0f07f4c1 CLINVAR:142536 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 496d5d59-9b34-4c10-9997-3fd6209ed825 CLINVAR:655054 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6bac26f0-940e-4a55-a6fc-1905b18d87ff CLINVAR:655054 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba2e291a-46e4-44c9-9b5a-2008ee0f464f CLINVAR:662690 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a48fb7c8-bbcd-4269-9831-9d0748beb50c CLINVAR:662690 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f381144d-c790-464b-804e-538b287c6d9c CLINVAR:142206 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 285dbfc8-60b8-4f32-8e4f-08e79ca4cd6d CLINVAR:142206 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92d8fea6-ee4e-47e9-af44-e71900c36027 CLINVAR:406597 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3332867f-d621-4fbf-8af3-516138cad255 CLINVAR:406597 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0194352-f595-4d9f-9207-48f58a9d402f CLINVAR:233627 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50d7f66f-a998-4bff-9cd8-f5f078c1c521 CLINVAR:233627 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19fe705a-bfd3-4f82-ad1a-dcb76dbb2efb CLINVAR:246416 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0aaab7dc-5087-4e52-9718-6707797cdb4a CLINVAR:246416 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfa7ef38-362f-4baa-a376-28569d81ab58 CLINVAR:823452 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60f41826-71e2-4e3f-a4cf-b27a0c733ead CLINVAR:823452 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 838252ce-4ead-4a94-8442-f1d5bdee2299 CLINVAR:376632 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2df5a21e-b029-40ea-9634-2c034bb552c0 CLINVAR:376632 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c3ba3ed-35cb-4dbd-abf9-db84431b0c4a CLINVAR:528270 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5433ac76-71fe-4962-a968-bd9a183bc5c8 CLINVAR:528270 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ff7e621-5fcf-49cc-9be7-26f49248121b CLINVAR:12376 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7a51bddc-7dc3-4684-bad7-88fa0d4d0383 CLINVAR:12376 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d50c261-1919-4c50-ac9d-b321333f45de CLINVAR:184863 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 249d2f0b-2d42-4750-a4ea-d1cca30c6333 CLINVAR:184863 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab22fb77-85a7-4447-9f9b-f2d6feb62b10 CLINVAR:1053218 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98967751-ac2b-4d3a-9da1-8ae0e97c908e CLINVAR:1053218 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dec20b7-e9ff-458a-9e42-eb879392c64e CLINVAR:855487 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cac107c1-41f2-424c-b76d-058971e5fa7b CLINVAR:855487 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6af6bc5d-9dab-4e54-a342-0db277cab882 CLINVAR:482229 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 91cb768a-0344-4a73-92b0-d2883cf2f049 CLINVAR:482229 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0a56399-391a-4df1-91e2-dbded3784d0d CAID:CA9870021 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a22541ad-f6e2-463b-b409-85e548201d3c CAID:CA9870021 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cb91403-5354-46b8-9b65-b626ee86fd99 CLINVAR:803609 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b603e9e-fe9b-4ef4-ad9e-54da7fcac051 CLINVAR:803609 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15b03fe3-867e-4d2d-ab96-f3fabed7aa64 CAID:CA409107643 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e29b64d1-6add-4a1c-a6d6-8df7d5e9f121 CAID:CA409107643 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fb28944-f55d-49dc-96dd-d3c42d1190e3 CAID:CA367358007 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f86cbee-0e43-4eab-b153-8fad9a2eb6c5 CAID:CA367358007 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cba53d48-7b2a-4eff-9df1-dca77a1a9da3 CLINVAR:3893306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 730dd37c-e039-4aa3-9afc-f09256b420fb CLINVAR:3893306 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b30407c-60d8-4073-863a-21f8b154ab31 CAID:CA367399229 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b26d6a8-c352-4d7b-baee-b661e56ebb07 CAID:CA367399229 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88800079-5ee8-4e61-ab50-6b3aa4b79d88 CLINVAR:235097 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d5298046-e887-4e73-b9e6-e4e8833f4f95 CLINVAR:235097 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a99eab0-e15e-445c-a67c-9357cbd8bce6 CLINVAR:573130 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cc7d7fcc-7b2e-4fb0-a10a-a5cf044ba24b CLINVAR:573130 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 588f426a-16bf-44fe-b589-c36b137230b0 CLINVAR:1343440 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eaa98a9f-4dff-437e-992f-048614670845 CLINVAR:1343440 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18a3dbe3-d2a6-419e-a461-3ad04c3bcb5c CLINVAR:2138538 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a49a8e5-2867-4764-8e83-6b26cd063ea8 CLINVAR:2138538 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a8f4917-4bc6-483f-bfd3-4ff18ab9ba55 CLINVAR:2430153 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03eff9cf-6d89-4c51-a8e7-e018d16b91b9 CLINVAR:2430153 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c12a3585-8cb8-491e-8ec0-c88780901004 CLINVAR:1802337 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ca986c40-103b-4312-852c-85fcaf9862fb CLINVAR:1802337 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 276cb2f3-a5fb-43b3-b012-fb3e535c0ce1 CLINVAR:866825 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56efdad7-1c7d-4570-8ad6-6249b8378ce4 CLINVAR:866825 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b4976cf-7819-4961-8df1-5729c593172c CLINVAR:143743 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed70d978-87cb-40f0-95cc-83b17da65ed0 CLINVAR:143743 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56bf1c59-2035-4002-882e-e1a3393fbd83 CAID:CA2695195451 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5514f619-bc12-48c7-ae02-058b22e7f99c CAID:CA2695195451 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74ee4afd-abba-47b3-a8b9-3724c29e147f CLINVAR:3028600 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8a28395-9a94-4afc-9dd3-d05077967e1f CLINVAR:3028600 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a825a1b-f2f4-4e17-8a43-c839ed4e645b CLINVAR:98727 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 673d9b81-cf37-45a4-bdd2-88cbf5ab693a CLINVAR:98727 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdb1a1e5-b41c-47bd-b0ca-32539794d352 CLINVAR:98728 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25a9c255-a2f3-46f7-a4c7-0c3a316b99d3 CLINVAR:98728 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7df2297-d91a-4144-9336-4189a593b652 CLINVAR:98729 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 37998c82-fa25-417a-9db7-464192d46a2f CLINVAR:98729 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a96321d9-ffc4-4311-808b-87d7f0efc80a CAID:CA412739890 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9e879e36-fd8d-425e-85c0-3d3f98649363 CAID:CA412739890 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bb67557-b8c8-41d3-b1b5-4a8bfe88ce7a CAID:CA412745793 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 76689a15-fe55-462a-ac9e-55028e1e7c17 CAID:CA412745793 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43065a6d-0ed0-4eae-81c4-4582e9a5077d CLINVAR:812418 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ecebd79f-91e3-479f-bcca-240ee4a36966 CLINVAR:812418 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a2ec9d-3296-43b7-8361-698607edd805 CAID:CA2573131851 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 427e8368-24a6-43b3-ba22-dd7e203a6e25 CAID:CA2573131851 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f700007-7f5f-4dc4-bacf-f454538a037e CLINVAR:1707409 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d6af79e7-3ca1-4473-8b58-5c8b9a8f07d7 CLINVAR:1707409 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0321a54-c850-4a2c-8e09-6ef232fea6b7 CLINVAR:975133 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e1ef25ff-a36b-4389-bd68-d9a09260a929 CLINVAR:975133 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18c32c33-f80e-4d59-9c87-ab18e09cd3d4 CLINVAR:98742 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb70c00c-d81a-499f-80a9-a1da87bd72a4 CLINVAR:98742 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7142aef-d93c-4150-9065-61648f63d5f8 CLINVAR:98746 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7def744-6794-4e44-b119-953dc286f788 CLINVAR:98746 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e1ad4dd-5d30-4e1b-bc25-bc16d38ea10f CLINVAR:1213922 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b50ae8ad-757a-4fcd-9c7b-00de1e24bfb2 CLINVAR:1213922 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eda5353b-c02c-4b9a-ae9c-c3a17f6cd231 CAID:CA16020883 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49ed7d9b-5e17-42bb-8c3f-ab36e9b70d9f CAID:CA16020883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91666ba9-9784-4f11-ba57-7ddabd2a602f CLINVAR:2417518 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 71aa15fd-6c7c-4473-977e-004b8ef33a6a CLINVAR:2417518 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e5acfaf-8532-44e4-b7f4-7eb8d9feed89 CLINVAR:1297114 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b8bb126-f877-4759-a096-7156f8d74df0 CLINVAR:1297114 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d69aef0-9605-49fd-bb7f-98d528bbd4dc CLINVAR:866755 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b0afd703-50cd-4127-8b8c-cdedd4ae727c CLINVAR:866755 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16427bb6-d00c-4555-9468-a823da870a43 CLINVAR:1065689 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a847407f-6126-41b2-bac7-f671cf74dd1b CLINVAR:1065689 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2301eb4e-fa9a-4e1a-9316-f3e5dab9e64f CLINVAR:1676154 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b212e772-4b28-45c3-a15b-995693c322b5 CLINVAR:1676154 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91aa313d-b364-4c65-84ed-fdd20e4aa2f6 CAID:CA412745623 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c2264b39-b968-4c99-b78c-c109e3fd12ac CAID:CA412745623 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47490fc5-cd7c-4f81-8529-8254d17e9ef4 CLINVAR:1275779 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e229c7bf-46af-4603-a43a-aa1644dcb4c0 CLINVAR:1275779 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40d4d16f-d4a0-4154-a1c9-4ce25fe3d329 CAID:CA412731265 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc475687-03eb-4c98-9197-f9244e0090d3 CAID:CA412731265 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2188b694-ad0f-47c3-ad79-a195152a2cc5 CLINVAR:2099208 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3ddcb07e-0b72-40bf-849b-0c10d421aa9c CLINVAR:2099208 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d7fc0e-d105-4528-adf5-ff7b99217dd0 CLINVAR:975136 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6ce0859d-3d57-4c13-abc5-61d05f0ef9ee CLINVAR:975136 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f23a921-9666-431b-960b-5013e6eb8c42 CAID:CA2588340080 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c513279-b232-41e7-9de0-35c913337597 CAID:CA2588340080 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff421b84-58c0-4830-9bda-0e9d7b840545 CLINVAR:30006 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5829ad26-d5f4-45bc-a796-8de14dfa469d CLINVAR:30006 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b652aa9a-89a0-4190-847f-20ad47021b0a CLINVAR:690063 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86a5bf87-80e6-438b-aef4-e169e8e77e0b CLINVAR:690063 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a55526b6-c290-43b9-97da-bf506e02088c CLINVAR:9619 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6e85785-3501-4efe-bd42-08bd337cd02f CLINVAR:9619 biolink:is_sequence_variant_of HGNC:7478 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c6cc805-338c-451c-820b-7ab663b8da54 CLINVAR:692374 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ac82ab8-3f6d-48a5-8901-cba0ab8184b6 CLINVAR:692374 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d1fb805-ca69-4003-8d59-06192de0e47d CLINVAR:155893 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7bdc29b-9a4f-4927-9409-0f426615f9b7 CLINVAR:155893 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9533a6f-1216-4443-9da7-7c4cdd559927 CLINVAR:155892 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c5112755-2c5e-4757-98f9-b40a5b51a57f CLINVAR:155892 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb30f3c4-da06-4390-b7d2-5dca053891e9 CLINVAR:1328561 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f851243-57dd-4a27-b453-c863f9d53555 CLINVAR:1328561 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8887433a-dc4d-4d88-b98d-10866683cee2 CLINVAR:9589 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3df1215-8a33-4748-98cc-1d1c6325e10e CLINVAR:9589 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7557a5c0-5a61-4c4c-a8e1-be57ca9cff3c CAID:CA415077248 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28638f93-8be0-49eb-a947-7e9006399588 CAID:CA415077248 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a923057-a8cc-4f9d-88eb-885a13be417f CLINVAR:11701 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b6f376a1-9faf-4f1c-aee3-9e66685101a4 CLINVAR:11701 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 934cc7d4-7dfe-4b26-aed9-5ba0c85ac1ca CLINVAR:2504565 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f09df923-1080-47b6-8171-eceabb472d55 CLINVAR:2504565 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ac73484-6c6a-428f-b460-8c0f3e72a662 CAID:CA415080308 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 412c015f-f9df-45b8-b447-3b6109d66703 CAID:CA415080308 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df6a4b0a-5c44-4e67-9c1d-69b0cd45988d CAID:CA415086207 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bbd51da-1703-4379-a48b-54b202fcb027 CAID:CA415086207 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0a6677-52df-4cea-90b6-a7919a457d05 CAID:CA645530575 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fd06c373-92db-4228-b93d-481f4f16bd1f CAID:CA645530575 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8e79b02-2853-4b36-a2fd-990397b1ef87 CLINVAR:284800 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3fc8b6bf-3006-478d-8d07-8f8414a4829d CLINVAR:284800 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b882aa1-dbb3-46f3-9135-fe65e052ae4c CLINVAR:94352 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f004cd59-f239-484b-b426-b19eb63f09f6 CLINVAR:94352 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae4f7e8c-7b79-4cfe-9ce5-7c95a4efc406 CLINVAR:6679 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 041d1efb-49be-45ee-800a-56a0cb831175 CLINVAR:6679 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77aa67c7-01ec-46f3-a840-1a6094e01144 CAID:CA2586969497 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0da5af96-10c7-45e1-921b-a592d705ad15 CAID:CA2586969497 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48a1d2f8-e98c-48e6-ad20-83e342d6c859 CLINVAR:217227 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a1ab288-3ab8-44e4-862a-db3185b664fd CLINVAR:217227 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b96300f-bee0-46a8-90ef-c310edac9314 CLINVAR:1433815 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 76ac5589-1c49-4b92-9861-d1e7b3b4769a CLINVAR:1433815 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c29823c-3f2a-427d-bf0d-5dd3fb4dba41 CLINVAR:194805 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28e0034e-3a1d-439e-8daf-3ea7e80c6f0c CLINVAR:194805 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 967007ea-2880-446d-ba28-2da4865a0fe6 CLINVAR:284469 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 57d7771e-58a8-4619-9d4f-b048b0d87378 CLINVAR:284469 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2955eaa4-f59b-4e2f-918a-2fac82aeb742 CLINVAR:984127 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e64ea198-308f-46fc-a7ea-67af51976702 CLINVAR:984127 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11b65e71-3dc7-4e0c-95ea-ccf2d31dacc9 CLINVAR:94263 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4a2f8c7-e1f1-4f05-a989-440d879a5c8a CLINVAR:94263 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f874e24-e0ab-45d7-92e2-6183270efa2b CLINVAR:550946 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 80d6160a-7ad2-4ca1-86b1-bea50b98ed66 CLINVAR:550946 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 311d9850-fc00-4842-b83f-678c8998c490 CLINVAR:374503 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 53978a2a-4160-4228-ba45-62eca6a0e3c8 CLINVAR:374503 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7348251c-4a47-4466-ac93-22a46f1bf49d CLINVAR:496872 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7c2f658f-ce6e-4633-8c21-b7818f4e95e7 CLINVAR:496872 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7caf4269-dd2f-408a-bded-2b956b0eb5b2 CLINVAR:94271 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a14524e9-1574-47cc-a5c2-794588771aed CLINVAR:94271 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62c66922-619f-467b-87c3-9758cf312c7d CLINVAR:2674961 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf917338-cced-40c3-8358-65d3f9be6109 CLINVAR:2674961 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 504338ae-1ef0-4fd3-9502-e01165530e94 CAID:CA347220794 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae1e6eba-eb4b-4243-817f-31d4958dc69b CAID:CA347220794 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b06ae74c-1c28-4ded-8856-f8e86a458c12 CLINVAR:429885 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 94ae46f0-5461-47be-aa16-8b08393ced2e CLINVAR:429885 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2abd6f5e-ebee-4da0-95cd-5dfc0d5a53ee CLINVAR:217225 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8f4c6c85-b677-42fa-aa74-0cd0151b1f96 CLINVAR:217225 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf8241f9-b300-44aa-a6ed-1af2b8782025 CLINVAR:265108 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3021ead9-9e88-40ca-8012-1d43e204930c CLINVAR:265108 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92587f53-51ba-43c5-a376-a1b7bd166973 CLINVAR:498353 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 56b0ebf6-c4ff-4d77-9f57-14772f1014f0 CLINVAR:498353 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d06254e-27b2-4b23-969e-bb82c26b294b CLINVAR:94337 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cd0bd1f5-91a1-4f0f-9d6f-bb641e6c1e8a CLINVAR:94337 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86d9140e-347f-4012-b019-70c83c71e540 CLINVAR:284804 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d648435-d618-40ca-807e-60ddd2d6fc5b CLINVAR:284804 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9edbe4a8-ba63-4bd9-b8f4-b6d7c4582b77 CLINVAR:94274 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d65866c-aa23-4eaf-b614-e71ead62fa6f CLINVAR:94274 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff091808-207d-43b9-bce0-f63419b70488 CLINVAR:6682 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0e9f3bf-504e-4255-8514-ab1aabb48994 CLINVAR:6682 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f4bb34c-ef52-426e-b438-522e8a5297d1 CLINVAR:6681 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e80200a6-c819-4457-bb3d-136099925981 CLINVAR:6681 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc6c59a8-3d1c-4443-9a6d-b646c5b8717b CLINVAR:837557 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2288a179-e2f4-4772-809a-f1c586398398 CLINVAR:837557 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a135973f-dd01-49e8-9247-c53f05302a02 CLINVAR:6675 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41e35efa-6438-4afd-b11a-26cb35c2bb91 CLINVAR:6675 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5797bce9-b08d-4fef-87a6-87567d3b3cf2 CLINVAR:18443 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 461b1f1b-11ea-4643-9a30-263bfe3177cd CLINVAR:18443 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60fbd331-6765-4384-922c-656ab56437c5 CLINVAR:94340 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 23b664ba-5ade-4acd-9207-038d40cc04e9 CLINVAR:94340 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f8725f7-eb1b-4b84-9c9d-8b4fb13c952f CLINVAR:6668 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48efd53c-4e81-4f45-93d2-8a8966ab73cc CLINVAR:6668 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d92fb79a-7e24-47dc-a079-310e1c3a541a CLINVAR:286151 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 773bfb00-3146-4c78-8ce3-aa4ee9281876 CLINVAR:286151 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efe8357a-ade8-4b44-a82e-45ce23170e90 CLINVAR:502095 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e8fe591-505d-4df3-9545-0c48b3014d01 CLINVAR:502095 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c7eb0ba-d0dd-4343-8e94-c1a92413baf2 CLINVAR:2018639 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 74ce9004-832d-4e26-82db-9b6e90336567 CLINVAR:2018639 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f08d9bd9-74df-4e4c-91b5-c393f90a7779 CLINVAR:283474 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a16ade4-fcd0-4ecb-a875-7d440612c6dd CLINVAR:283474 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 702e08c1-a628-4475-ba70-27dd41beeb75 CLINVAR:203587 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 009e3fa7-6058-40f3-ad39-a67fbe7699d1 CLINVAR:203587 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c955bc26-3a20-4697-85c8-2fd344139bad CLINVAR:429246 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5675f771-11c0-44c5-b34b-c1a2313d4962 CLINVAR:429246 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e2da589-53a8-4d0c-b41b-2c2c93797d01 CLINVAR:102571 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef70f6c4-6b27-4037-a629-681c697150cb CLINVAR:102571 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cce223e0-2dd2-4c82-9011-aad0dedbedec CLINVAR:102798 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1042780-a19b-474d-89a2-f2dff6de1c8e CLINVAR:102798 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1342fb1-9bbe-48ad-9bb8-efad973ec63e CLINVAR:102547 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74653874-afe4-439f-aa7d-4a1b5bf556b3 CLINVAR:102547 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fce56ae-daa2-4c75-8ed1-23da6a60ef82 CLINVAR:462651 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d9f0ff6-cc51-432a-9ba0-5017c264af97 CLINVAR:462651 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78729f03-b739-420b-a7f0-32a8e23f9480 CLINVAR:52411 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c7f8c5f1-2674-49ff-9d46-65702590a939 CLINVAR:52411 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b075bcdd-ea1c-4153-8260-00f566a7800f CLINVAR:52563 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8ae1d8ad-1f32-4e75-b7fb-3457ed1b336c CLINVAR:52563 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bbca367-0200-44de-8d6f-2f66cce3155d CLINVAR:373826 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a31d7f23-056a-456a-bb4d-8ef41057bf11 CLINVAR:373826 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87967448-96db-4631-9297-5802e2ae81d7 CLINVAR:232047 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73876ad6-4b0a-4061-868d-990dddb43872 CLINVAR:232047 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1eb9858-8a3c-4ff5-b782-9b7e06f24be7 CLINVAR:96949 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9fbdb1eb-4158-4229-a422-586b321cb689 CLINVAR:96949 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b67c809c-d791-4a87-af27-cbbeb3c27747 CLINVAR:52491 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a385d024-ac86-4420-b1d5-b15712da075a CLINVAR:52491 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd444ecd-5f51-4edd-96bd-b09a228e83ec CLINVAR:479367 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 058309be-0ab9-4682-8ef5-c4acca4ce7b2 CLINVAR:479367 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 109afefc-843b-4b34-b151-297e43122353 CLINVAR:216263 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb824a43-39f2-4b35-b167-996b955bb035 CLINVAR:216263 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a88915a-beab-4aca-9d65-cea03d5bd61e CLINVAR:55482 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f4726d9-5d76-407a-81da-63e202ac99fa CLINVAR:55482 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07a4fdc4-feed-4335-bacd-41b9a654f3e5 CLINVAR:55631 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0ba2e23-ca1d-41f6-b6cb-d84181802e45 CLINVAR:55631 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8962fcc3-4718-4b72-88fd-73823612f6e9 CLINVAR:421439 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ecf3110b-e194-46a2-a678-ea604c5b5f3a CLINVAR:421439 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c579918-776e-4a95-942d-c5e528e0b8d0 CLINVAR:55399 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36b164c7-687b-4c81-bdd8-8db9df5d94c6 CLINVAR:55399 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98fd525b-efdd-42c1-b64b-1b7f6e8070b5 CLINVAR:531399 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 60c5d807-2fba-48bb-8c8a-b3bda46267f3 CLINVAR:531399 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6eac3929-a654-4133-8523-fe7f89fc86d3 CLINVAR:37650 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a77e5941-a641-4876-9d30-7541d363df8a CLINVAR:37650 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d5714ec-ba83-4e13-b252-464b03226a41 CLINVAR:55530 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45545ab7-2b11-450b-932e-bc232653964f CLINVAR:55530 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd759b12-808c-460d-a005-7045a0769a16 CLINVAR:440481 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d0fb15e8-8808-41f0-9f1a-20652a153452 CLINVAR:440481 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b96617d4-ec60-4208-878d-3339a0ac062f CLINVAR:868490 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a867871b-c399-4ffc-ac89-ab6f7efc65fd CLINVAR:868490 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2ac3f2e-090e-46f9-bb50-61ba35a3cde5 CLINVAR:629251 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0e6224a4-40f1-4179-9c4d-3191501f7728 CLINVAR:629251 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89677d24-1f59-4f67-9dfd-28238cac2366 CLINVAR:531444 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 44e5808c-2912-4f0b-9ef1-3a3d8c2ac89d CLINVAR:531444 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 239fbed1-d450-4d64-947b-05c34e32d6b3 CLINVAR:52056 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c6e952c-48c0-480c-b45d-4e742629ca8d CLINVAR:52056 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24b334a2-f74a-41fa-9a47-2f448e92794d CLINVAR:252889 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 883b0adc-9b1b-4280-8406-96d99ec9b6da CLINVAR:252889 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49ee31cf-f363-440e-a436-df0cb7b0ec9f CLINVAR:368117 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bb9135dd-2863-457c-87c0-22cfb1d3290c CLINVAR:368117 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 809ad2c4-ae65-44ef-bf14-555e806aead7 CLINVAR:1029498 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42aa2edd-46e0-40a3-ad80-ac7b6045aeb2 CLINVAR:1029498 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eb1fff7-6349-41c3-a7df-966bc6e5eaf3 CLINVAR:811219 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cf9556a-a8b6-4bd4-b4f5-f390cea8ad72 CLINVAR:811219 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 961897d1-15aa-4346-b2db-56a5003f4895 CLINVAR:1512896 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8d6bf410-79aa-42a6-b202-104d19546bf9 CLINVAR:1512896 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce1c3fae-712a-441e-a016-45d321aa7fb5 CLINVAR:626973 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f70c07b0-c910-4409-9d61-00851c001793 CLINVAR:626973 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2798a4d3-b3f1-43b6-b335-a1d696dd557c CAID:CA414914381 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47937ef6-2de4-44f6-8306-80df77ad5ddf CAID:CA414914381 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e0de53a-2157-4af3-97cb-0ea9f306dd77 CAID:CA414435714 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a73faa7-e838-4c0b-ba34-943b58d2e285 CAID:CA414435714 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27a4073d-6098-4fef-92d7-b4e9a47688b8 CLINVAR:55397 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 48c057c4-c4b7-4045-9724-c9e4eae5db3e CLINVAR:55397 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ef4f1af-9c2d-4364-ac1c-0c71ee3b7230 CLINVAR:940200 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7909fb53-9da3-461c-8e2e-271b3cc288f0 CLINVAR:940200 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d59a7bc7-11c0-4490-95c5-452b05f344cb CLINVAR:251515 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0031c5bc-ce67-4e94-bc9b-c9b1546725a8 CLINVAR:251515 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ac8373d-56ed-448c-b4b2-b3af0cafe139 CLINVAR:226380 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87c81348-9f43-4044-8157-a1cd6b3ba2d8 CLINVAR:226380 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb3165dc-59f0-4050-9d6c-c6737005b9d2 CLINVAR:226379 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8084787b-ea91-488a-8370-3822ec7f957d CLINVAR:226379 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5114b6f6-5cbc-4324-a67d-1af5bdcb126e CLINVAR:252107 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 866215dc-ef40-45a7-b848-7626a302a549 CLINVAR:252107 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a0be81c-1bc2-4c51-b264-356c502321c4 CLINVAR:14209 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6785022f-b9fd-4f4e-a752-67e05f5a2af1 CLINVAR:14209 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e4d0153-20ab-4f8e-9955-8ed2d02bf5f0 CLINVAR:926510 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5020d394-eecc-4202-908e-580b36b1895d CLINVAR:926510 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95a95100-6683-469a-963a-987c71d977f4 CLINVAR:975142 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 64837caa-0552-4d16-9fcd-d2cd35ee1424 CLINVAR:975142 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af3abf12-fdfa-4e88-9c7d-f795ffc80c3d CLINVAR:865892 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 665ceb20-6828-40d7-a366-ae7d89295efa CLINVAR:865892 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a4a6ba1-4c69-4e36-b654-9f846af75271 CLINVAR:866844 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 881804b4-d2a6-45f8-b627-5a4d24ceb109 CLINVAR:866844 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78eab98d-d365-4085-a142-536186c3c181 CLINVAR:1802355 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b8dd1d3a-87a1-449d-8149-971d10a61d6a CLINVAR:1802355 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e15157f-a858-45ad-b15f-2b9908738987 CAID:CA2677125568 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a14a44f5-e182-411d-982b-45bde72e19a0 CAID:CA2677125568 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14eb3046-64b1-4594-a093-35e6742c887f CLINVAR:251112 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2158800d-d938-4cea-a207-2e874a56b347 CLINVAR:251112 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cd340ab-fe71-4685-bc0d-205a31a46c60 CLINVAR:251113 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4519640-e540-4411-8b6f-f2fbb356b0c5 CLINVAR:251113 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc094b5e-dc35-4432-ad16-57cec520e378 CLINVAR:250958 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47925fff-7018-44bf-b167-4035970a9ecc CLINVAR:250958 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f895229f-4cb1-4172-bce8-1dc239a94938 CLINVAR:3351476 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58dcaeff-057f-469a-ab05-6b0e9ea10087 CLINVAR:3351476 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe10e38-66c5-4dc6-8fad-d8403dad79ca CLINVAR:2574633 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ee3aef38-630d-4e54-9d13-f563d1880267 CLINVAR:2574633 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc8c657-126f-4536-8dc3-28b5096fd0da CLINVAR:1350522 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c435665-4149-4ca2-95cd-3329b76ceba3 CLINVAR:1350522 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d57c18a-f852-48cb-9cf0-a6e2d2014bd1 CLINVAR:447426 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef134db2-3b15-453e-abd3-e6903465dd65 CLINVAR:447426 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40a7198a-0af8-46e7-8a88-4bc37cd414a3 CLINVAR:2582713 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15f79a7d-7c35-47d5-a3ae-345857ac1802 CLINVAR:2582713 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb7564cf-83fd-4320-bcba-548206757928 CLINVAR:4077388 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74025b56-c000-4a1c-9791-2f8154149323 CLINVAR:4077388 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 792ee287-6845-4ecc-af6a-4bb4652ec160 CLINVAR:4077385 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0934aa5-d208-4636-b852-496e16700a85 CLINVAR:4077385 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f4978d8-d17c-4d18-b203-c7877810fe69 CLINVAR:4077384 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33e1feaf-3438-47ed-8a64-cf0013a81b0e CLINVAR:4077384 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fab49d7-4390-4c1e-bbd9-e31ea2b46c5b CLINVAR:4077386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a12f404-3248-4f49-96e1-2fce1d9ada76 CLINVAR:4077386 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33761c38-d041-4e56-82d6-95d453d53730 CLINVAR:4077387 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cfc0ea90-277a-47bc-8ef8-9cef42aef3d7 CLINVAR:4077387 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39de7867-2b21-4242-aeba-5ae134855cff CLINVAR:4077381 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ac6f661-eeff-4f26-9a37-680d0d56679b CLINVAR:4077381 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7635fd9b-d941-4140-aaac-7125f46d7012 CLINVAR:4077382 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bdcf52e-aea3-45c7-aea8-a00f4a4c54e3 CLINVAR:4077382 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9893301d-210e-422a-a691-43e0c58d96bd CLINVAR:4077383 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b5b0cf11-3f6b-4fac-97ac-966026f449da CLINVAR:4077383 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00226cc2-df58-4c45-b20e-a585b5fb4bed CLINVAR:4157 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74bc7a32-bbde-4851-9c3f-6e64cf4caefb CLINVAR:4157 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 165b5b56-a3f6-40f0-9de3-798aa1e93725 CLINVAR:1677212 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0141152a-fb2e-4dd8-a46f-289d911fff22 CLINVAR:1677212 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48babf4d-9523-4b59-aa3d-8d69c9f325fc CAID:CA2695202181 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60d71413-20b7-4f6b-833d-5cd41177dc0b CAID:CA2695202181 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d422c3db-ee36-41fe-ae18-95e7a70cbd31 CAID:CA2695232668 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ef437dd-f543-4be3-8f10-100cf011a5a6 CAID:CA2695232668 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38c22ec1-a95f-4e73-9688-e7817e700f1e CLINVAR:867143 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2fc0c5be-f3e1-4a64-8ffc-23c4258b1494 CLINVAR:867143 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b3d5e53-1f24-4b23-a011-9924788c809c CLINVAR:1297120 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 131067d8-f90e-4a5f-bea9-02f5e9383ab2 CLINVAR:1297120 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab8257c3-842a-4b60-b8fa-dd39dd7343e1 CLINVAR:183262 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26117563-d421-4e5f-a038-59cc9acdab24 CLINVAR:183262 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d2e5227-7dbe-46ed-b332-27f777e9891f CLINVAR:865888 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d60a4a8e-f337-4b9e-a61e-1e20530ccc17 CLINVAR:865888 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f9c0496-b35f-4dbd-ad8f-dacdb7dc7511 CLINVAR:620583 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0169529c-421d-430a-97ee-0828a7c40378 CLINVAR:620583 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27898a56-dd7b-47ab-8949-bccf576d9da2 CLINVAR:1802335 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b00d957-3e62-4fc0-9b05-c02f696f8ead CLINVAR:1802335 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30da8e3e-9278-4517-aa3c-d99d65026134 CAID:CA412730484 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 08c96202-b168-4c4b-b14f-ba89bc2cfd42 CAID:CA412730484 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d26e760-37bc-445d-8f74-3ecd52027234 CLINVAR:865886 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 35e92d37-17e2-4643-8eed-4f584f9a8adc CLINVAR:865886 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b068bf35-08b9-4dcb-9743-29ce0fd10378 CLINVAR:867074 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33e100f5-6ab7-4d89-a123-7cc447ec8963 CLINVAR:867074 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a0bff11-18d7-431d-984b-09bf03ae7709 CLINVAR:866274 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14906820-6e55-49c0-93ef-1c02d088c531 CLINVAR:866274 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f6e037a-aed8-4b9f-8d11-7f7663dd24a2 CLINVAR:555213 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c8d55e08-e44d-4dd6-9376-7cda40f5ee74 CLINVAR:555213 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92deb8ba-d415-44f3-b1e7-472c15191916 CLINVAR:1300185 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afe01b56-a570-4a85-bf59-175dbdc96486 CLINVAR:1300185 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef912dbb-2af1-457f-b592-1dfbb4e4cb80 CLINVAR:217157 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 627aaf39-9e6a-4f43-8569-4b491a84e417 CLINVAR:217157 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc5f317-825f-4cf5-af25-adefa87db5c2 CLINVAR:194354 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f243eb04-14b3-4741-91cf-c5446274aaee CLINVAR:194354 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dde267d-39d6-4f12-bad3-2b457f916bab CLINVAR:813970 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b22bb5da-1e96-425e-bcdf-3bc7e6d9e1ca CLINVAR:813970 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 619ac84c-c733-4785-8d8c-f0b3dc1874d0 CLINVAR:935255 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 33867f36-6f13-489c-bbaa-04177b22a3a3 CLINVAR:935255 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 163d1eb3-6684-426a-b63a-561f2af173e1 CAID:CA2573052014 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03de9036-9fdd-44e0-b157-6457fda77268 CAID:CA2573052014 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c25be0f-92cd-497f-b6a8-ee787cd83cf7 CLINVAR:289245 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1919e3b-3401-4b84-af21-8d3b23bc9bad CLINVAR:289245 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5f5071c-e0be-4718-b113-6c4cfcbe48ab CLINVAR:288116 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 09c9fc04-928e-4180-912b-385e8d8e3d4a CLINVAR:288116 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8cc7b76-d37b-4dd9-87b5-9f2337f24c97 CLINVAR:858180 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ee36280-a129-4ee2-a8be-b2d0527aa825 CLINVAR:858180 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b4107f0-e08a-4a96-9237-4a282be0bdb9 CLINVAR:281012 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 953527f6-3ce6-4d9b-89b9-c8a98d5fbd98 CLINVAR:281012 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4eff586-754e-4655-9c21-d4c1768f304b CAID:CA347216867 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a0b0a52-732c-49c3-bf3f-76a5a8e6dcbe CAID:CA347216867 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18788a2a-7a38-4607-a048-517663610091 CLINVAR:1802365 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a9f5fe2-8811-4f66-9e04-e7b76cebc0f8 CLINVAR:1802365 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67e9eb12-d978-4e9b-a73c-82adc6470f70 CLINVAR:9908 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 797938b2-8247-4c37-a1e5-9db77b548ea9 CLINVAR:9908 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff5fe8ac-af9e-446f-bbdb-f5bdb22af53f CLINVAR:866097 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5dde844-8f61-4887-a034-0a7e3dfdc93e CLINVAR:866097 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce2c8b1b-34fb-4370-b730-b22b66c2b4b6 CLINVAR:1455429 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen effb65c9-f576-478d-acec-33f585339b6e CLINVAR:1455429 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3804f772-0e39-46bd-a4a4-a65ee0dd5401 CLINVAR:866316 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c4552a8-80f4-4fb4-849a-21098a4a1653 CLINVAR:866316 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e5d101e-eb88-44ea-b2c6-3e1a5c664da1 CAID:CA2588340081 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ed5b67a3-94d6-4211-9af6-58ff0e4a8571 CAID:CA2588340081 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06b1ff8f-739c-41da-ae41-e2bd32f20d7c CLINVAR:865798 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5a6ab1dd-dc72-4498-a6ea-0f4799d8a0a7 CLINVAR:865798 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b51db81-aea7-4f54-88a3-21a7e6af94b9 CLINVAR:1802328 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9adc96f-4beb-4c2d-a6d8-cbc7609222e4 CLINVAR:1802328 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8eb5ac9-3b34-4c70-8a8e-94bb062b2d51 CLINVAR:1802369 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cc95190-0b11-4631-ad7a-eea952e8062f CLINVAR:1802369 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 654f4860-baef-41ee-be3b-b07df18028f0 CAID:CA2581463496 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a81470bd-a783-404a-be42-8f88e80e5c5f CAID:CA2581463496 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7b24d27-b191-442c-b8c4-8437ac27ecc6 CLINVAR:2138533 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13a43396-c97d-4a56-a09f-afb3a372840a CLINVAR:2138533 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dab1494d-aeac-41b9-9fea-0bee82973e11 CLINVAR:812411 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68b5512b-b27f-4e31-8adb-af9751b5d7d3 CLINVAR:812411 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4af2e223-d238-486d-a086-4666e4316fdf CAID:CA2695202259 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 54edea86-c1e5-4c45-b47c-e17db06c4154 CAID:CA2695202259 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e707add2-294b-45b7-8569-b818c78e13c4 CLINVAR:98771 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3bd432a9-2db1-4a11-9fa7-433c16602846 CLINVAR:98771 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66863af0-3353-4fb9-9189-9d295b3bc7a6 CLINVAR:636110 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cfafd911-6846-4739-97b6-f25e3ed4a928 CLINVAR:636110 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 703dce37-f78d-4139-bd08-85dd660893f2 CAID:CA412729749 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4cc3b4c-874f-47a4-824c-76e6876d82a4 CAID:CA412729749 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b18d34e-d308-40e4-b9d0-4ed735aa963d CLINVAR:2430223 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16d09949-a335-4c05-a2a0-75cc8d18a185 CLINVAR:2430223 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3965f02f-93f9-4900-be43-fcadecdb7a54 CLINVAR:2430151 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 063a28cb-112a-40a7-8506-5ede5c9eecde CLINVAR:2430151 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 868adbbe-255e-46c1-84e6-5b624ac9df74 CLINVAR:9917 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d3f66ec-c4cb-458e-9b7d-361dc9a6a069 CLINVAR:9917 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c01e1565-cfc7-41e5-95e6-24df2492ac93 CAID:CA2588340082 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7cb05549-e918-42ec-b91d-0a052f277976 CAID:CA2588340082 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecc4f352-fda6-4180-aa43-5d79ff18c1b6 CLINVAR:624397 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5bfa86e2-446e-4179-b9da-284442b0b852 CLINVAR:624397 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f1c8a22-6f72-4a1b-b488-5bed39876b52 CLINVAR:3249360 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3fc01e9d-71ab-4e0d-8822-391152d4220c CLINVAR:3249360 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f531dd6d-65a3-4afc-9a41-ca3e4e6cc4ea CLINVAR:9912 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e3d0a68-1db3-45ae-a689-fd80ac48f2d7 CLINVAR:9912 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feb9fb6d-e3e4-4680-bdd4-de368d7a86fd CLINVAR:811889 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fad98ea3-29f3-4d40-bf15-7caf40ca1e98 CLINVAR:811889 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd32d4fe-4963-4689-8020-64a923cd4939 CAID:CA412745199 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c1c93e1-b2f0-4f0b-9974-0c0986a60961 CAID:CA412745199 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01db9250-b8e3-42fe-895e-8d77f21f0b62 CLINVAR:98782 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd103a9b-aed3-47b8-80a2-dd67ceb87eb0 CLINVAR:98782 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5935949-5210-41d4-969c-8010fc04995d CAID:CA2695232559 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8af589e-6612-498b-8429-6fb2678b1cac CAID:CA2695232559 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec53bbf2-110a-4382-a175-068a7c26fc7b CAID:CA2695202180 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad684718-2cf3-48e0-9d64-e6b75ee0ca29 CAID:CA2695202180 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c39f4162-4589-4693-87c2-2da414921886 CLINVAR:1685804 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c3988c1-aa94-4c05-88ab-b439ab507bfb CLINVAR:1685804 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57a42cec-ecc1-4bf9-8090-1d05c50dd53f CLINVAR:812409 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ecea048-c16e-4b9d-85c5-9da1941b9526 CLINVAR:812409 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f122e85-2483-44e7-98ae-7bbe79743fc7 CLINVAR:1802373 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90978e71-0f16-46f7-9446-d7a62ffea8dd CLINVAR:1802373 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbf0ddcf-2fc1-450b-8aef-ca135861315b CAID:CA412729246 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf3ca5b7-f6b2-4209-81c0-82b86996112b CAID:CA412729246 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1791cd2d-903b-4744-9766-44ea0862c5d6 CLINVAR:1012646 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f913409-9d2a-48fa-bb3f-c35998d6f858 CLINVAR:1012646 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b1f6b8c-1026-473e-bc01-d4066548f5da CLINVAR:9911 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c7ffeef-51d2-4e7e-9736-c14f2a8a254a CLINVAR:9911 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04f6062f-f1ca-4b02-8eee-a13d4b64a939 CLINVAR:866381 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8ae74c04-69b8-427a-ac1b-17a99450635f CLINVAR:866381 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9db9adef-ac9c-4e36-b06e-59b61c0bdad8 CAID:CA412745347 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca97c7d7-3dc1-4ffe-bddf-8a0cf1e67aa6 CAID:CA412745347 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10df3485-f56a-4f4a-9675-4753cf095d08 CLINVAR:98779 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 968384af-fb9c-4935-9074-d576ae0335cf CLINVAR:98779 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aa7fff7-aa60-47d0-a52d-512bdd6c0f18 CLINVAR:98780 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8512adda-1d2f-40c4-a4d2-ee18a2b9412c CLINVAR:98780 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2c2eccb-a82e-4398-9cc0-53fa51b7cc67 CLINVAR:803964 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6bea3c94-ddfd-4fc8-b31f-a70e11feaf10 CLINVAR:803964 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c9fe34f-3430-4b01-b6c8-254314c5457c CLINVAR:1284488 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4c38c10f-c52c-43aa-8128-eb4d65045ce1 CLINVAR:1284488 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2cb17ed-81d4-44d9-8477-e4a770a61173 CLINVAR:1802283 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 21690fcc-8e6f-4e7d-b858-c6d2b2f7c809 CLINVAR:1802283 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bea9bec-ee42-4e50-9d48-1c24deb4bdfb CLINVAR:2138526 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 16bbc2ea-f060-4c78-9241-95ecf574257b CLINVAR:2138526 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b42ed669-cbe6-4ae3-b210-2729c389b775 CLINVAR:2099207 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5199c386-669d-4a2d-87c0-8d8ff9cd23f3 CLINVAR:2099207 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9d45b9a-bb60-45f5-91b8-af1c940d5baf CAID:CA2588340092 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e7437082-f536-4b2a-aaec-0a18e019e88d CAID:CA2588340092 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ece8b2c6-73bb-4bca-bbc6-5f5114efc531 CLINVAR:2787059 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51f0ac28-18df-4a42-8673-a8fd8802939f CLINVAR:2787059 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b9abc51-4955-4194-9a52-65586c84edd5 CLINVAR:98787 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b9b5408-63e2-412e-9293-c0791e108d55 CLINVAR:98787 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d3aa281-2131-43c6-963c-2aae109dde32 CLINVAR:975129 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b62b6337-997c-477f-8967-4c448f26ab8a CLINVAR:975129 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7a3fa87-34b7-4341-b072-5fc446a6078d CLINVAR:866642 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b93ec14-71ba-49ee-88af-86d9ca8d6598 CLINVAR:866642 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 582952a5-d192-4379-9e7e-1e7ab1efb6c8 CAID:CA2695233285 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de12758a-9401-4e53-819c-172fcf169117 CAID:CA2695233285 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c70fdca8-c34a-406a-9803-fad6c9f0d15e CLINVAR:98795 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc681645-65ce-4d69-a9a7-dcd088b981d8 CLINVAR:98795 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 386cf647-c6aa-4edf-8014-b75170fc6776 CLINVAR:236482 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5869a4e7-ab92-47b0-82ca-c7d29da02698 CLINVAR:236482 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8baa3226-78c0-47b3-9b75-e18d3996e267 CLINVAR:987407 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4226320e-a50e-45d3-bbf7-d8f86a8fda0d CLINVAR:987407 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73a0ef06-e0ed-4210-a7d4-7906bde6696b CAID:CA412742555 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd2df6ac-efac-4f97-b79a-a4dc1ad7489c CAID:CA412742555 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e3101de-98e5-49a4-8b75-f5ce792a0d0e CLINVAR:2138542 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ec93be93-03b6-42db-91ff-68644aaedacb CLINVAR:2138542 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49e00f1c-cd3c-469d-95b8-6450f14dfe80 CAID:CA412741475 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 053664fe-f13d-44e0-a5da-8a9d48d4c592 CAID:CA412741475 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3372b7ce-727d-4e5b-bfaa-99f4a2d847d7 CLINVAR:98812 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d89a290-626d-4546-8bb9-815f5be20924 CLINVAR:98812 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 588f0f24-9af5-4402-b769-ebf40d9f079b CLINVAR:98816 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dc471d90-a9af-443b-8323-53487f325257 CLINVAR:98816 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1fe48d-5b73-42ec-be8b-57d1235a862b CLINVAR:1297121 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 371fa7c3-a43c-44f3-8909-aa8ecd5117fe CLINVAR:1297121 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22dac9e3-84a7-4832-bd8f-ebc71ec83eeb CAID:CA412743099 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8547fe18-5463-4065-8564-3ae6a094a888 CAID:CA412743099 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 206c162e-285e-4646-91a9-4be222cac5a0 CAID:CA412737308 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3deee940-ff9f-4185-bfb2-0039b66225d1 CAID:CA412737308 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc31ac33-13e7-4fb8-b803-ccedcb7800e8 CLINVAR:98753 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6dc4136-801c-4efe-9c52-8139e421362c CLINVAR:98753 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df73a7b9-17b2-4c36-8dc8-29ee4e369d9f CAID:CA412731500 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9f1e55f9-f3cb-4805-af71-908f66480fec CAID:CA412731500 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d9d717f-f5d4-4e2f-8a0a-f11373498d41 CAID:CA412731451 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 53519810-f27a-46e3-ae5d-012eedb12a73 CAID:CA412731451 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e14f3e3-1fa4-4166-9dcb-d82f459ffd58 CAID:CA412731233 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bde6bfc2-8aed-4bf8-989d-c43463ebe510 CAID:CA412731233 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 025476fb-1c26-4923-95a4-c74589212814 CLINVAR:866408 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8262f848-9dfd-421f-8e87-279d3d035ff5 CLINVAR:866408 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4327f62-2e9b-4e5b-a0f8-f0c41a4f0715 CAID:CA2695202182 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2614f82b-0191-4bb1-bbfb-8801b47d1bb8 CAID:CA2695202182 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0189925c-d27a-4b8b-a88b-8a23411cd3e9 CAID:CA2695202183 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4d17f0af-ff50-487c-922b-335183b7a5d2 CAID:CA2695202183 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa358e79-0ead-4be7-9569-d6689cc47b68 CLINVAR:989392 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9ec630e-edce-4793-acd1-ee663c4360a3 CLINVAR:989392 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3d9a7c6-ae06-4df3-9072-05999e471682 CLINVAR:866191 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2634bb8c-e9fa-43a7-9349-d1e429b1ae35 CLINVAR:866191 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01313efa-a5ad-456a-833f-a10fe986947b CLINVAR:865990 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f85f2477-930e-4935-a8da-e4b1b4f861f3 CLINVAR:865990 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16f34b76-f7b7-4a3a-a2dd-3733f7ace5e1 CLINVAR:2737195 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07182d6e-08d3-4097-a431-818887b9863d CLINVAR:2737195 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1c92300-0fc7-4955-9ecf-b5bb8178adfb CAID:CA2695232631 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6711b404-14e6-42a1-97e5-8022ecf3c0de CAID:CA2695232631 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fdf7380-e462-4e71-8cb3-1d32f414ea8d CLINVAR:3598278 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 650d56c5-7ff9-488a-b8d9-5500d1c62b29 CLINVAR:3598278 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f2ee10d-c24f-4749-9840-107dcebaa512 CLINVAR:593841 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dcabad16-e5fe-4ccd-9cee-dbde70a97c0b CLINVAR:593841 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a2f18f5-39cf-4fbe-800f-eaccd69b8505 CLINVAR:812420 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f05c656f-f84d-4aac-9150-0ad3fea79142 CLINVAR:812420 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09516de8-8629-4576-8b35-c5f03af1643e CLINVAR:9916 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84229842-0858-4aea-bd94-33c908c08cdc CLINVAR:9916 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 973c5c0e-c2a9-4ea1-9732-d48631c632a0 CLINVAR:3249728 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c1ed5ef-b536-44e5-9cfb-29e59399ed9a CLINVAR:3249728 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36317711-91a7-42ad-818e-9aebdffdf453 CLINVAR:1802334 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d237ec99-b79b-427b-ad62-7c44c7520d7b CLINVAR:1802334 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08552eb4-3e0e-4a09-bacf-600b74841487 CLINVAR:866638 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6c9302d7-7b76-4efa-87fa-e7f04b56e8d9 CLINVAR:866638 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a25d7912-3ed6-46a7-9f00-4cc1ff32603e CLINVAR:2118600 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d1aee4ac-d929-4dbb-8a7f-ab9851c572b1 CLINVAR:2118600 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e37cfdd-9385-4868-a659-f582c344fbf7 CAID:CA412741589 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5bcd8b33-e433-4777-9e13-1a9532c3cafb CAID:CA412741589 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eca4c630-51c0-4e68-92e4-336217029d45 CLINVAR:252130 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eeb2bc8d-b4e8-4e22-b53a-566646da01c3 CLINVAR:252130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5651b401-0801-44f8-8aa3-be3556567ddf CLINVAR:252129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa5e7e02-5114-4aad-9597-9a9a46c55d48 CLINVAR:252129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93bf8444-a427-4d74-b335-53a35bdecb5c CLINVAR:628891 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b03b242d-a6f3-457e-a26b-96090dfbcbe2 CLINVAR:628891 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c50697cd-694f-4a52-bbd9-5537f6d19ee2 CLINVAR:1008168 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ab16c083-ce0c-4789-a145-a62109767aba CLINVAR:1008168 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04a2d858-eb7e-400f-a78e-de64b0cccce8 CLINVAR:375827 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2bd83a21-bf08-4717-876a-0c036bee3d6c CLINVAR:375827 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a82b54-6f24-483d-8edc-99ba1c4da002 CLINVAR:810849 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9b3f5fc9-b277-4ac6-bb2b-5f29a10a67bc CLINVAR:810849 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e946c060-ab1e-4dc3-8159-45975b8929df CLINVAR:441225 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1512e45-8656-4a39-8a33-6c7c4fe5623f CLINVAR:441225 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94673cdb-7724-4700-a238-352f1ee92862 CLINVAR:251762 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bba33714-5e31-4f0c-867f-4516992b78ed CLINVAR:251762 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a93aae7d-7151-4675-a38a-21315b0cea0d CLINVAR:575372 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8ea538e6-7700-404e-b2fb-d94c6abd96fe CLINVAR:575372 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e137bc79-8ecf-4d26-98f1-2a5546b16d70 CLINVAR:252035 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7f94d657-fb9b-451e-9371-2023bae0f6d0 CLINVAR:252035 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b493275-a762-4437-b5a7-4f5690f0b0f9 CLINVAR:251725 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51040535-0d81-4b4b-bc98-1e399ab7dcb0 CLINVAR:251725 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67d114df-821f-4351-bd9a-81f9d4598bf4 CLINVAR:923326 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9244b791-e48c-43f2-9992-e04a1c0b067e CLINVAR:923326 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3ac8531-e9e4-4382-95d2-db7b86b87539 CLINVAR:925475 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c934710-f9aa-4816-9cf7-b88cfd50ea27 CLINVAR:925475 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9b126b7-3450-41ea-8a0d-092a096193e7 CLINVAR:251047 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 699c829b-8dc6-4ed2-bef7-c8d405f797b1 CLINVAR:251047 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1264db56-192b-4913-b730-cb10d27baef7 CLINVAR:252111 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5d8f024b-307d-4688-8703-ad820bec3bc6 CLINVAR:252111 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbf3cd2a-9fc2-438a-9e44-688b33219f17 CLINVAR:252225 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7d497120-cfa9-442d-a9ee-0f31778e0013 CLINVAR:252225 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65db34d9-b8f9-4363-b357-a5835b515f5d CLINVAR:183116 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8805b056-5ff1-4621-ace1-fa6a7074f2d6 CLINVAR:183116 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1816dbf-2168-40a2-9f04-778a4f164e76 CAID:CA355946316 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1dccd4e0-ef97-49b9-9e4a-42d0fd58bddc CAID:CA355946316 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac5c5215-bf0e-49d8-bf54-9e0c925afa77 CLINVAR:554590 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cac34d11-c097-4faf-9840-6221ca6f5c53 CLINVAR:554590 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31290e73-e2b3-4915-aea5-2800f8da509a CLINVAR:1683230 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 005e85b3-d2bb-4b62-9faf-5b3a8488c8b3 CLINVAR:1683230 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2417d76-872e-42b6-829e-09a32ab18463 CAID:CA355961295 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aaa6c803-37b0-428e-a5d1-91e58cdc9480 CAID:CA355961295 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13bc634c-1b11-4fee-af12-fbf2cd91638e CLINVAR:638076 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1ce4e5b-25e2-44f3-83d9-1e77e015af5d CLINVAR:638076 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 284d345c-7814-4eb0-af25-8b6a662591a5 CLINVAR:284864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0965d2d9-17e0-46c3-bebe-7c3bb61e4a79 CLINVAR:284864 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed5ecfe-fc5c-420d-b71c-da5364291e32 CLINVAR:657307 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b11e9ec7-2d23-4b27-9170-979732936bce CLINVAR:657307 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0392ed9-36c3-4714-8f84-738ba41487b0 CLINVAR:1322965 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 52dbf90c-6af3-4caf-97df-8ef6a35d961a CLINVAR:1322965 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c576607-8573-4211-980d-a47d03418936 CAID:CA401370634 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c066d16d-c98d-42b6-87d7-4393e19a0aee CAID:CA401370634 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59508eac-b85b-41eb-8573-2e853e851c16 CLINVAR:2675756 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e549106f-8f13-41f6-92e9-26581552384c CLINVAR:2675756 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad73a5d-eb09-4b65-b8ce-0716ea325173 CLINVAR:552776 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12412ca6-8938-4278-bc49-0526e13e5bf8 CLINVAR:552776 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95763cae-fbc8-4622-9f63-8c36d3d67ebf CLINVAR:555277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 934bb860-bd8a-4c3b-a1e3-4b48d387fa6b CLINVAR:555277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f85f13ad-06b6-4f56-ba64-98cc15bc4150 CLINVAR:843318 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49aa779a-7519-4f92-b4f0-c4134d3f1c69 CLINVAR:843318 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9700b5a7-d32a-47f5-b161-57f49d150a65 CLINVAR:597382 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dac97d6d-914d-4ffe-a9f0-7686816bfeda CLINVAR:597382 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f93085a-a9a4-42e5-80d4-b3c0a7431e89 CLINVAR:98983 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc846d93-d5db-4a67-941c-f480bcd063b6 CLINVAR:98983 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5749229f-c552-4dba-82cf-32b3f4ae052f CAID:CA412370587 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 03fc9ef8-9be1-497a-b312-4a6c50ba8203 CAID:CA412370587 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd5ba596-cd7f-462b-872a-a1716cf71c87 CAID:CA412370595 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1fe0ea4-375f-40ee-954e-81cd663a2e9b CAID:CA412370595 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6f5b711-53c2-46e1-ab4b-f5adf054240b CAID:CA412370010 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c89d81f3-a8ee-493f-939e-f579b1826bb4 CAID:CA412370010 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c55a0f31-6eae-45cc-b14e-2e43de786843 CLINVAR:1511265 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9dcc9235-7101-4be8-baaf-9da42dda00c2 CLINVAR:1511265 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9079e1e-220c-4400-ae53-5cddb3f6f69e CAID:CA412370011 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39087bd7-4451-4e47-81ee-f3e85b82c515 CAID:CA412370011 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c74fc967-df9d-483c-a8d1-850f933d142f CAID:CA412370012 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1a920f7-0e66-4d63-8894-d1f6947d7af6 CAID:CA412370012 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 513dad70-22f8-4140-a403-c04ca0543326 CAID:CA412370008 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e7d04ae-bb58-4591-9816-b7d1950b103f CAID:CA412370008 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28b96e6c-baad-422d-aec9-d9f9006afb89 CLINVAR:9893 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72ab1b4b-324e-4a32-bea0-7d823ced9967 CLINVAR:9893 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74c31383-9085-4473-880f-897be049959a CLINVAR:9896 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0308a2af-f928-4064-a6a7-5d597427f765 CLINVAR:9896 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6448349-90dd-4414-972f-2c7d27f9b521 CAID:CA405687674 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ddfe4992-6b8f-4167-b281-7bd1bf2457ed CAID:CA405687674 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 355d1482-1151-453e-b6c8-5332564d1106 CLINVAR:1705621 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a1a6ecd-1f7e-4e83-977a-8ddef625ec60 CLINVAR:1705621 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee5e9c48-044a-4415-9ef1-1275d6d82d7a CLINVAR:986927 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24da8267-dfa1-4259-8c79-b7510b508ca6 CLINVAR:986927 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcbabf9c-6a4b-4c9a-b8ef-09300b14c402 CLINVAR:224998 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75c669ac-e4b1-4a1e-8e91-3d1cf1bac84c CLINVAR:224998 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01c01fbd-177e-438f-afe0-a9467adeb913 CLINVAR:18284 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8688df90-b602-4a5b-8011-175f8924f8d3 CLINVAR:18284 biolink:is_sequence_variant_of HGNC:129 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2194e0b5-1742-4e83-bd90-fd681069058a CLINVAR:1409309 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 99c73a3f-ae55-4f9b-b10f-80f715110362 CLINVAR:1409309 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d28e86cb-5534-4171-a1eb-37fdb20d3482 CLINVAR:1411575 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad48352f-654c-406c-9cd2-1bf545d53224 CLINVAR:1411575 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb7b9c00-dcc3-43bc-ba18-574e4898c856 CLINVAR:836280 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 12dd7031-3275-4210-8054-fa1dca36a9e7 CLINVAR:836280 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f9bcced-bd03-4f49-9382-578543fde651 CAID:CA343777356 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 39782fbb-4131-481e-a1b5-6abd5512a7f1 CAID:CA343777356 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72838381-a2a8-48bd-9038-b797f0e78368 CLINVAR:644952 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9444c631-21bd-420b-86c3-fb294221bd7a CLINVAR:644952 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fd1cda1-766a-42e2-bbdf-325156cfc02f CLINVAR:98960 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c7941c0-d655-4956-8357-324ef68a0f44 CLINVAR:98960 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3497ec8-94e4-4966-85fe-ca3a4ad47bd5 CLINVAR:98959 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6b1e76a5-0cb1-462f-9fa1-5b6a6759e335 CLINVAR:98959 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dad65537-8136-441b-b6d5-3d48b9ae1055 CAID:CA412371856 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d542a983-989f-4b24-a239-87354bce9a62 CAID:CA412371856 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e5e6146-afd0-4f6a-b962-a0b1d9f63345 CAID:CA412371854 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ea80fe96-6236-4cef-bb0c-af4de26270db CAID:CA412371854 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8b28148-6e66-4e40-9553-59f9b5d8b2e2 CAID:CA412371862 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 468c7108-a22c-4064-ad77-49b8e30f17f6 CAID:CA412371862 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba289d56-e385-4ed4-bfc1-7a93b52b95f1 CLINVAR:9892 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68ce1089-36f3-41b0-a5bd-59c390fa4d7a CLINVAR:9892 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6930bdd0-fbfa-447a-9383-efe3f9cf4d7a CLINVAR:861026 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 673df586-d1ac-4726-a3b7-b23a1e537afa CLINVAR:861026 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a50ea0a-4d48-4a52-b12e-1954e5bdbb1c CAID:CA412376879 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c5159d93-6a2c-4650-92f8-c667aaa5dc0c CAID:CA412376879 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 002e9412-d559-46ea-ab0a-8707a7f4e315 CLINVAR:207109 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39fb0ef7-191a-4ad4-8f5b-880b2d0408ce CLINVAR:207109 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2dec901-1ad4-4fb8-90b3-7b942f4b4478 CLINVAR:2820766 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79e14d68-373d-4b54-9b1c-c16b4e5409b9 CLINVAR:2820766 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 363dcaae-410a-4664-b79e-3132cdd0ec0e CAID:CA412376875 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 791aa46f-0f83-4508-8ff5-47076a943af8 CAID:CA412376875 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 253116a6-4037-405a-aaba-9a9b1bf44103 CAID:CA412376878 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de517592-107e-49d2-8c6b-b35635f8f12e CAID:CA412376878 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 098405f9-97e9-4366-abad-8b65f4986571 CAID:CA412376876 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d0d3c9f4-5318-4e5e-a120-cec2eaf28931 CAID:CA412376876 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c177a45e-d52a-4c3d-a110-4f268a94af67 CAID:CA412376877 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09e17490-61e6-4436-a03f-bfa09153c5ec CAID:CA412376877 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29a8bd28-5e00-4719-965b-138afb55d487 CLINVAR:2785684 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8331f8f-e6e8-40c4-a05a-0e834912c313 CLINVAR:2785684 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44973523-5c3a-406d-88d3-e20c81fd00ac CAID:CA412379033 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ec7715d-40ed-40f2-b8e5-f585eccbd2b8 CAID:CA412379033 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a205135-9543-42c9-bf09-2a8ffb88d76e CAID:CA412379043 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4402aa73-0baf-4cfb-ac16-f47cf41662ce CAID:CA412379043 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5b91f60-3ce8-499a-966e-94ee93358ff3 CAID:CA412379054 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2fa3e64d-4cb4-411d-beec-5f3f29e885d8 CAID:CA412379054 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a151e4da-49a0-42b0-908c-358729bd1b07 CLINVAR:98986 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5b4cde80-ad06-42dd-9f0f-25a26ce6100d CLINVAR:98986 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 941177e3-0521-4023-a59b-26b540300e0e CLINVAR:866919 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75eb06d1-b45b-4cec-ba1a-8d9f932d9452 CLINVAR:866919 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcb2b603-2c4f-4741-a15f-bf532f9176cd CLINVAR:4060894 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a12cf7e-ab67-4b61-bf03-b71cd8bb2dd8 CLINVAR:4060894 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9931cde5-0fc0-4022-902e-cda6ae9d8c7c CLINVAR:2122675 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e7bb65f9-44fd-4c81-bb0e-4ae01b864587 CLINVAR:2122675 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07de54b6-cfde-4b26-854e-2cf0c080981e CAID:CA412370385 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51fb7be6-84c0-46d2-b462-60dd7a6b4475 CAID:CA412370385 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99decad5-3a5e-42bd-9235-eedc8677c012 CLINVAR:98988 biolink:genetically_associated_with MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8794f82-4b9b-4ce6-b500-52131a64b04e CLINVAR:98988 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e015fc5-6dd9-4f7b-8b2c-cfafbda3e7da CLINVAR:1478325 biolink:genetically_associated_with MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80bafc27-5e25-45b9-a883-3c5fc9b4561d CLINVAR:1478325 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2210e255-b7a5-4026-8eae-a6e330fb8577 CLINVAR:13328 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abb4347d-31c4-4d29-958f-036012ebfcce CLINVAR:13328 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 672924d8-1c96-472f-b60c-a255bf24e52f CLINVAR:40563 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc4550af-c227-4313-aa62-72aaf63a4264 CLINVAR:40563 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab11a30e-bb19-4f3f-8d2d-6780748937b1 CLINVAR:3609795 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07315850-69dd-4ea1-ab2e-3fc4dc38abc6 CLINVAR:3609795 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94e9b23f-fddd-4211-b8a7-61fa896e7b4e CAID:CA409103850 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f9be0602-63fe-43ab-a356-889fa12d1b30 CAID:CA409103850 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ff891f2-95fc-41db-b3c3-ac184987a64c CAID:CA409103851 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c9fb930-f995-46e6-946d-fbf25d4af26c CAID:CA409103851 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb26a7d-2fcc-4814-875e-677d7a24c7d9 CLINVAR:1723210 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0d4db3e-7324-46b4-acb6-6fa33157a1fd CLINVAR:1723210 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37d9bf51-9687-45fe-9c4a-f6ed217d057d CLINVAR:2580860 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 02679a54-85db-4624-9e8a-4ff00a0b49c8 CLINVAR:2580860 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62b5e670-98d9-413d-9686-45475e0e4a97 CAID:CA2695203125 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d9757ee-441e-4b38-9c52-b07fbb651b6d CAID:CA2695203125 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0598449f-6ba5-4c50-a46f-82bfd59d65d5 CLINVAR:3768773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85ce9cd1-c011-4a19-a933-42d752ca5b2a CLINVAR:3768773 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63b7d1eb-6d38-4d65-8dc4-d11f184087a7 CLINVAR:2136518 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ae9af8e7-5dc8-4a96-b8d8-6ac6f2a08218 CLINVAR:2136518 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef423375-ef3b-4101-b1f2-b78501a4b327 CLINVAR:2580859 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83cdeb61-4f90-4b04-a6ba-8d5e718727c6 CLINVAR:2580859 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eeee6bb-47f1-42a2-a085-efaf715653a8 CLINVAR:381599 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b3651e1-16dd-418a-87c3-2a42219b61bc CLINVAR:381599 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9980312f-9b3b-482d-9fe4-acb34479b6ab CLINVAR:36248 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f99b52b-eec5-48e5-86b5-01ea45c65441 CLINVAR:36248 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97850988-9c93-46a6-b49c-519a29d81a4a CLINVAR:503699 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c98b630a-33cc-4ede-836e-7fc9eabf3793 CLINVAR:503699 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4e48983-5ae6-48e9-8e39-9766bca22c9e CLINVAR:496634 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2fb52bc9-30b9-4e3b-9558-eb2fbc0e742d CLINVAR:496634 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 782eea92-51e5-4f2d-9dc7-3d9722788b2c CLINVAR:18039 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7f2a2c2-c9dc-4de4-8253-e557b85e0b3c CLINVAR:18039 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4041062-cfba-445e-8d30-6df3a090f872 CAID:CA343777358 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b9cedb13-f1fa-4412-8e33-16f71b3b3ead CAID:CA343777358 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0707995e-314e-449b-b4b2-f6188d7682d4 CLINVAR:2736407 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4592cd22-8a93-4c36-ba7c-1a63509e467c CLINVAR:2736407 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dc0a751-ef22-4b9d-8524-0d602a99ae91 CLINVAR:2152271 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f882ec1b-2b27-44ed-b58b-c1e23c2db9a0 CLINVAR:2152271 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94610e9f-77ea-4920-8d57-b45f41e3ebc4 CLINVAR:870937 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88d1402a-a25d-4cbf-9665-e0d2e233a9d3 CLINVAR:870937 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f341f842-d654-450c-aaf5-e5f9e242ce8a CLINVAR:99798 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 899a6ddd-61b5-47fc-984f-cdd84cea23a8 CLINVAR:99798 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc9d9a54-9ab6-43fb-8693-2584dcdc0295 CLINVAR:635995 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 838f02e1-1d01-4756-80a1-e2181e978d10 CLINVAR:635995 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddf8488a-11a3-4d28-acd0-a02ae6d24f63 CLINVAR:5565 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 86ccabdf-8609-4945-b5ac-22fa1d66aea7 CLINVAR:5565 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12f42fd1-e84b-4c92-910d-29a9f2a37eb4 CLINVAR:99804 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b5baa99-7869-4615-a007-a16145d13db5 CLINVAR:99804 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8eea1d2-c618-4ea5-a99d-0a43bfa7ad8c CLINVAR:5566 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6bc0e4d9-187c-4fbd-940d-ee0500f8715d CLINVAR:5566 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b22d3d56-bb16-45fd-b7fd-c7c6a8db8bf1 CLINVAR:65711 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f0244ea-6366-407b-ac80-ecaa11c9f3da CLINVAR:65711 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f6f7578-fb3b-45ac-814c-e09d474e7333 CLINVAR:574505 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcce4f75-4e1c-4e21-af82-ff5fe7cc33e2 CLINVAR:574505 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e10f050-6109-434b-ad48-ea69093f104d CLINVAR:1451640 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa7c75d9-dc07-4fd8-af9a-a89669767990 CLINVAR:1451640 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 973f1870-c4c3-48c9-8f57-8e42b1dbf83d CLINVAR:813151 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 17453cad-739c-4c53-bc88-8f2a831be2f0 CLINVAR:813151 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47fa67aa-bc9f-4965-8cff-a1d1870686d3 CLINVAR:812219 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a10545c2-e8db-4ee0-ae9f-09b6b3e432b6 CLINVAR:812219 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9ba2217-7db5-4665-b619-1ad37ea818a7 CLINVAR:5567 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d08dc9b-fb70-426b-a36a-1d6db2405999 CLINVAR:5567 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 540c646f-d492-4013-b6ba-279266d6d232 CLINVAR:867104 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 73179809-3f63-4c45-9a54-57701957a18a CLINVAR:867104 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29ec6819-35a2-4646-8a56-22f9a27c21c2 CLINVAR:1419404 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c390fe7-c52b-4cc2-afc0-f9605737fc06 CLINVAR:1419404 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2da7291b-5455-4ec5-9f73-8249924f6e7d CLINVAR:2065408 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef95784a-1b60-4cc4-8fcf-27ea650254a0 CLINVAR:2065408 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5bc1689-b0e7-4e87-b0d0-d5fc301d9ce4 CAID:CA397397299 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96003508-adaa-4f2a-9652-18c8b89058be CAID:CA397397299 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f54012-1724-405c-8785-87de4a526acf CLINVAR:324623 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 730e755e-0784-4175-8994-aeffb494fa4c CLINVAR:324623 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 729d82a3-5afb-4e7a-a53d-a24cf697835c CLINVAR:377207 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc26ea74-4966-4e05-937f-7340ec30f84d CLINVAR:377207 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a06554d-e0f8-4b1d-adfd-f3303cec4170 CLINVAR:1364499 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8c5c4c7b-f475-4cf1-9c0f-46c9df7bee95 CLINVAR:1364499 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d64ac7d-61a9-423a-af25-8d8faf61ad98 CLINVAR:388828 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddcb9c29-3bac-4663-aded-4065ad2f4fd3 CLINVAR:388828 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5f92905-ec8a-4be6-ad02-38bf78306b51 CLINVAR:99790 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd904995-855c-4cad-b8fd-7095345038c9 CLINVAR:99790 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cbf9093-c293-40ac-9048-af368dc89782 CLINVAR:1385342 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58e87fcc-b72b-45a0-8032-7d5846cef7d3 CLINVAR:1385342 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6a2cc98-21fa-4026-a366-434d0d01db70 CLINVAR:2754882 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d66506b6-2770-4f32-9621-28b31f92a516 CLINVAR:2754882 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed910f25-9688-479f-a625-87a490ec98f5 CLINVAR:1486676 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f601a0ab-28c8-4439-83b2-0586e0ef64c4 CLINVAR:1486676 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71c8db45-780d-4944-90fb-5ebef29a0ea4 CLINVAR:2178827 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1deaa027-623a-4939-8328-7512c2eda2fd CLINVAR:2178827 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d08e9d3-161b-42a9-9c52-328a66b6c5ce CLINVAR:800208 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7afa2c5-8931-4b0b-9eb3-601e39a82447 CLINVAR:800208 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a20b4e-291a-4cb3-8409-5a2ebf53c402 CLINVAR:1400984 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9d335707-73f9-4c8c-bf6f-4514f46c0f16 CLINVAR:1400984 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e81b5d3-057b-45b7-b45e-8249ffac2902 CLINVAR:844508 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ffb989a3-56e1-423d-98d9-ce08ac6d2541 CLINVAR:844508 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 800febd6-1da3-449c-bc7e-d9117a8d7c5b CLINVAR:3513086 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b3d3faa-b42a-4f61-9ae5-e19d2c7ab2d7 CLINVAR:3513086 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 819305a1-400d-4a9c-a6b3-858239924a79 CLINVAR:953315 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86601463-9461-4ff5-94b0-dd8d384e55a7 CLINVAR:953315 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3129da1-8b1c-4e86-bd8c-f7bbf63430ed CLINVAR:2973015 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18e2ca08-1902-4ac2-83dc-9c80388f713a CLINVAR:2973015 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd4fdf98-8720-4f12-86ae-e14bd95b6981 CLINVAR:2736405 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 242f10da-cf05-47db-83bf-16a168f07ecb CLINVAR:2736405 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8af510e6-aa71-4f6a-a74f-12a26291113d CLINVAR:65709 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4e88fe8-3320-40cf-8eda-0b4030e79c8b CLINVAR:65709 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8db018ec-d6de-4e17-83c2-6b76f80d35b4 CAID:CA2576142335 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a09cb5c-8c5c-4850-88c3-963a69d860be CAID:CA2576142335 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52062ba6-0efc-463e-ac8c-c023fa9a6ace CAID:CA645590904 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b968396c-9842-4c4e-aa1c-05a93a822909 CAID:CA645590904 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f116f56-3170-4a29-9d8b-db05c3a71f81 CLINVAR:916622 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d501a6d-9b1a-4d20-aa2c-6399642ca34a CLINVAR:916622 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d36e6440-bdbd-4a79-be1c-f2ced48ad7f9 CLINVAR:636136 biolink:genetically_associated_with MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51ebb4a7-9078-4826-882d-f349881f9766 CLINVAR:636136 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f07ac51-ec4e-423d-a06a-7df35c9b9c0f CAID:CA397397658 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88891cbd-17eb-4aab-812f-37b2fee17556 CAID:CA397397658 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89c1a286-7038-4867-9b6f-acb303dbffaf CAID:CA397397285 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2e07e50-f945-413a-b70d-a9a091a64890 CAID:CA397397285 biolink:is_sequence_variant_of HGNC:359 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1332a62-055d-4752-a596-b2b39fc7ca23 CLINVAR:496681 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 68ceccfe-149a-4138-90dc-79540023fd43 CLINVAR:496681 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc5482e7-d27d-4b6e-aa6b-b7b59827ebdc CLINVAR:156598 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db290458-0c91-47fa-9f13-2a7d19a9a358 CLINVAR:156598 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e26a2f4-e796-4a50-9480-7e80c8b67ca6 CLINVAR:1700386 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a56904d1-03f1-4ce6-8ae5-61387abbd333 CLINVAR:1700386 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 268834d3-5e1f-4d1e-b5e2-956a4aa67fd4 CLINVAR:803716 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f514c6c-dddc-40ec-9814-a4dff35885ed CLINVAR:803716 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7d7e263-f1b3-4a4f-aa25-3f42e965e6f4 CLINVAR:2105592 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 975d9c0f-fd7b-4461-950a-f1432becd9fa CLINVAR:2105592 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46cb51be-38c1-4214-b794-6734c4340cea CLINVAR:189549 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc80f46d-617b-4e8c-b929-afc462657064 CLINVAR:189549 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 607ef6c1-0fe3-4e68-b816-e667833923b1 CLINVAR:211032 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64b12c04-bed7-4ce1-975f-5a25d708d545 CLINVAR:211032 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d413953d-68c8-4707-8094-7c45b6c5445b CLINVAR:1109435 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3003a7a1-9edc-44ff-bb3a-37a2256fb3bf CLINVAR:1109435 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e9d4d9f-07f9-44c2-b630-6cbd54ee64a4 CLINVAR:1489310 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3e770a75-68ae-4944-a2b9-96e4151a9bfd CLINVAR:1489310 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b59d59ee-51d4-4a8c-b845-422ba2b22873 CLINVAR:692624 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 392a8eca-ce40-4d1a-a5bf-2527bb369ce1 CLINVAR:692624 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37c3a70c-a85a-4db5-8cbb-a12fde6333cb CLINVAR:692657 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 075adafe-ebe1-4fc2-a334-6e0a0e4ca408 CLINVAR:692657 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f5e037-f2a8-4fc7-b347-936ca182d275 CLINVAR:690197 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2851954f-f2c2-49c0-9905-5c274a6291c5 CLINVAR:690197 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35c3ff04-d9ef-4d9a-acf6-e7455819015f CLINVAR:690178 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 98a8f28f-bee8-4b8a-88da-3c0dd09f89ee CLINVAR:690178 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49682af2-6c58-4bae-aaad-9f461e9a43ca CLINVAR:693064 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f2b7b588-c1a6-4ceb-961b-fd4c107f31c8 CLINVAR:693064 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22799509-97cd-4ea8-b2f1-061d651d7cb0 CLINVAR:693105 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44d4fa7b-8c55-44d4-bcc7-09f931ef10be CLINVAR:693105 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff9bc6a0-c445-4222-97d9-ffd2c2f4fb3b CLINVAR:267298 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 58dfda6a-ca26-46c3-b675-eef9fca6753b CLINVAR:267298 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e15160d7-9830-4535-baa6-5416fe640772 CLINVAR:9602 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1abc33e9-c8d0-45c0-a26e-9e58f0be0391 CLINVAR:9602 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d4c7184-1e75-40fc-8621-42b4892d47f1 CLINVAR:474894 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 657d8b86-264c-4655-a19c-ac6dbf577b7b CLINVAR:474894 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 585b87ea-1d28-4910-91fd-ddaf29fbac82 CLINVAR:92292 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b06de075-5088-4843-9760-8a8baf60bac0 CLINVAR:92292 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccc208b0-700c-45fe-b286-5d0d2f5c2760 CLINVAR:425918 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d72ec180-6aeb-4f45-8ae1-d91f00c4c75c CLINVAR:425918 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 295dc6a2-98dd-4733-87e9-1524c4665cec CLINVAR:425780 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cfeed04-5da9-4e46-9ab6-1aefab503004 CLINVAR:425780 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f8713f-8763-4a5d-88f4-a1ac0f0ae4a7 CAID:CA412376034 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f5d18fe6-b556-4c2c-9a17-8f9dbb2ba8e5 CAID:CA412376034 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c98ac62-e311-4932-8d32-dcca7f463167 CLINVAR:98908 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87485d7a-710b-4b70-ac8b-5f15a8300c15 CLINVAR:98908 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c5b3568-5faa-40d5-a02e-8d9aebbaee12 CLINVAR:425781 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c377993d-ee2d-4b43-b9b2-1fb70949a713 CLINVAR:425781 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24884bf4-adc8-4693-82be-4e04148aaf33 CAID:CA412376047 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8c73b8d-1c81-4d46-8fa9-90979bebe74f CAID:CA412376047 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a647b861-eafa-42cf-82e2-36d671d2a82d CLINVAR:2159556 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0650c9a4-0d38-4bb7-a2d4-fe83eb97a17c CLINVAR:2159556 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 467dc771-f26c-460d-b71d-a3f6d3356db1 CAID:CA412376061 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 98004e5f-2148-4d5a-ab5b-4502f315a557 CAID:CA412376061 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b8cda95-d8a0-4f35-947a-a07cd1b7ca37 CLINVAR:1700721 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ebee21c8-62a2-4f77-84ef-3d8602ff021f CLINVAR:1700721 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f59022c5-0c4b-4781-916a-aa37695dff03 CLINVAR:99015 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b40f096d-2e62-440d-9a11-c8a181484c9a CLINVAR:99015 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a01d65-73ce-48fe-861f-9a61e3ef72dd CLINVAR:99016 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f73fa238-a416-46a2-8d44-61485711ac8d CLINVAR:99016 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0cae7c1-db7e-4a45-8cef-f0cc04062951 CLINVAR:98938 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d2acc2c9-2ff9-4152-b377-13da8ad4e4c6 CLINVAR:98938 biolink:is_sequence_variant_of HGNC:10457 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acf203c8-c34c-4630-8acd-c9ca78565720 CAID:CA412740096 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d7f905c4-eb2d-4e9c-b2a8-ec85cafb7543 CAID:CA412740096 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd46e853-0d8e-42e1-8c78-729822a0dd92 CAID:CA412740071 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abee81bb-0701-4f63-94f6-07fc8c646dc2 CAID:CA412740071 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6db1f7d-cc3d-4198-95de-6f20caeae43a CAID:CA2695232679 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 889302b5-d9fb-45dd-8d39-61a4fec2b355 CAID:CA2695232679 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c76ee4b-3911-469c-80f6-0783005f8418 CLINVAR:813223 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 378a7e69-ac4a-4aaa-8a18-f43bf480310d CLINVAR:813223 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 627de6be-63e0-41c9-9dfa-5ed82bb73ec2 CLINVAR:98750 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 57ac3847-b1b6-42a1-9387-a7f407c97212 CLINVAR:98750 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f25b480-ef96-44ce-95b4-18ad6aec4836 CLINVAR:98748 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30fb03b2-2a7f-4870-9c53-9147ead48081 CLINVAR:98748 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95cd63ba-5fc8-4bc6-a134-e21a771a643f CLINVAR:996786 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 13ea3854-7e6e-418e-9c90-0639c5bb80f1 CLINVAR:996786 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c07a9d0-6503-4769-80f0-4de4f4e7e1f4 CLINVAR:427866 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40492074-b11b-4914-b7d7-b22dd1d341ae CLINVAR:427866 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5c8d9bd-291a-4b73-95ed-962425960070 CAID:CA2693440397 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f88c550-2f00-4bc8-a6e1-d3a72687ce06 CAID:CA2693440397 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e239bae0-3797-4080-9fc4-6dc8d0a5098b CLINVAR:812416 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7b66b15-6d35-40b9-b5f2-d41f9232cdb2 CLINVAR:812416 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f907d155-b6fb-4408-9e31-377106e20d14 CLINVAR:2430213 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a30547a-ae90-42ea-aea0-9e1267cf9711 CLINVAR:2430213 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29b79bf1-3ab7-4754-9cff-a7137e22ed23 CLINVAR:3249416 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 354ce134-a9d8-40a0-b412-400b0e2e70b5 CLINVAR:3249416 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dcb4c32-5189-4596-a49b-7ea4243c8962 CLINVAR:813232 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 885c2449-b20f-48f2-9d73-cb0dd46b8527 CLINVAR:813232 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b6376c-0880-4a3e-944c-985155212a21 CLINVAR:636102 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4d9f25f-0083-47d6-a394-a646605a961f CLINVAR:636102 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2b6caab-d4d4-4a83-b8d4-b069504b016b CLINVAR:1993965 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dbd7aacc-f8e0-4711-b8d7-0fb9609dcaf0 CLINVAR:1993965 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1f7e840-e8fa-4009-8915-f44cb5f11244 CLINVAR:438137 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c7035160-f357-43bc-a61e-319160e65905 CLINVAR:438137 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66f29326-88cf-4913-a12d-54c2282a98f0 CAID:CA412739364 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1d004055-4804-4b97-bb7b-c43bd4e7f981 CAID:CA412739364 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c9842a2-8b92-430c-af44-c3be7ff3a9ce CLINVAR:98739 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a5b259d3-4a57-4dff-b417-928210dbfbc4 CLINVAR:98739 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0789bd48-e519-450d-87fa-df6831514604 CLINVAR:866558 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e7c32b7-2993-4ea5-a8ed-9ad9ec67cdb8 CLINVAR:866558 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63300cb-52e8-4fd5-95c7-61de4ff3e080 CLINVAR:98738 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7cb27fff-59b8-49f5-88f7-0ced11615872 CLINVAR:98738 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bc33706-c09e-4fb7-aff1-3f3f48c09002 CLINVAR:98735 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 27a2b41c-3333-43d1-a20c-d8305df709a1 CLINVAR:98735 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6da89f83-8f3c-4b59-8598-d5809eb7bf4e CLINVAR:98736 biolink:genetically_associated_with MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen df967435-f59e-42de-a550-2bd6657412ef CLINVAR:98736 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 840011b8-6e2e-420b-8438-2faa96fdc98b CLINVAR:872283 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 68247353-f372-4241-849e-631e2e7f8736 CLINVAR:872283 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 974d759e-8182-4a3f-8f37-5b4df741527a CLINVAR:98754 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen de77ae9c-bfcc-481e-a3aa-09b2553dcb3b CLINVAR:98754 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0e9eb88-810a-4a9c-833b-233cdc06d9be CLINVAR:1928684 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9c680866-c4bb-4d48-8d16-793ec0af20af CLINVAR:1928684 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 693e8d71-515f-43ef-907d-2e493427ccff CAID:CA414891065 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f93e408b-0fdc-4d73-9d6f-5fc8cf201de1 CAID:CA414891065 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 854eb703-6536-4ee3-b212-ed05d8c99a15 CAID:CA414907101 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1be7ee8e-e8b4-4237-96d8-32d0759b0f69 CAID:CA414907101 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bfecbae-3035-461a-b26d-c675ce6b07fc CAID:CA414443534 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e194d44-d3da-4788-967f-b9b9cc72af51 CAID:CA414443534 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61ef2d66-8180-4cc0-9224-1cd20a1c5c28 CAID:CA414443538 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1207df5c-21d0-4438-bf1e-8f03de465fb2 CAID:CA414443538 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09089c21-d7c2-4ba5-a348-a3b9710ece79 CAID:CA414443541 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 036c1e5f-85e8-4d02-a53a-2c3b607e996d CAID:CA414443541 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5582dfb8-7b05-4b9d-8b01-2319d9948857 CLINVAR:425783 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63662228-6bc0-4484-8341-c53c696f2c60 CLINVAR:425783 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c199015b-d9e7-491e-8313-bc72ad0a8056 CLINVAR:431553 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9a40002-ff0a-4819-8b94-81a577e0ada6 CLINVAR:431553 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31bbb629-4ed4-4341-94a1-8a525d70aef9 CLINVAR:251960 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 698cef9f-fafa-448a-b6f2-8abdabeeaf9e CLINVAR:251960 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fb4206f-fe9d-4bd3-be78-2da6507c58a2 CLINVAR:3231953 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 517b11e6-5b53-4967-b1fe-0301745baf6f CLINVAR:3231953 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6654980d-6096-4c77-a4d1-2035ef757c3c CLINVAR:491662 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8a31822c-26d5-4250-9611-f7905c2c2769 CLINVAR:491662 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9114ba10-f150-4377-9c22-de6274d84349 CLINVAR:440674 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 647ac9db-889b-4df0-9764-9de2327f4d70 CLINVAR:440674 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14dbd223-65f2-46e2-a2bd-6646d9066cb1 CLINVAR:186005 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b0fe0ea-c401-4309-b0b0-0fb168633d05 CLINVAR:186005 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1d94c3b-2688-444d-a3f6-9b4f9c291e63 CLINVAR:3583501 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a94afe15-d044-4e3d-bd0e-e51fc44c2a24 CLINVAR:3583501 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6583b1e-0b0d-4d74-900d-654ce4b123d0 CAID:CA402997146 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a471317-6dee-4513-942b-9c7dec5dc634 CAID:CA402997146 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f0db159-44bb-4359-a43a-a4643cea9b7b CLINVAR:282410 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25096126-8566-4314-a681-db038ec710cb CLINVAR:282410 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba8d39c-39de-4cc9-9f5f-8ae4b669d73f CLINVAR:557110 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fec80e5-2434-42bc-9560-08e3c5f1592d CLINVAR:557110 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7573526-407d-42d7-adb4-d9fb4419e122 CLINVAR:265488 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 59ef9575-849b-41ed-b1d0-0f823b1b9b36 CLINVAR:265488 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7a0eece-37d9-446c-a7c0-acb0b5f1375b CLINVAR:551669 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44877fa7-7c11-40b4-89d6-71df2fd52f45 CLINVAR:551669 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45f56000-0655-4e6e-970f-a46c86b680d0 CLINVAR:551891 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 24b8c860-3ead-4058-8f63-d65221849101 CLINVAR:551891 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87aad1b2-b0cb-43e3-9c6f-317c4d06aa2b CLINVAR:6666 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f07d78fb-adec-431c-b66e-b47dfd98726f CLINVAR:6666 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41668f55-82de-4572-a02e-c33ed68f3080 CLINVAR:290198 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5beb45eb-d39e-4714-b527-31e2a6c3245c CLINVAR:290198 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0559ddcc-dc55-4a73-9e1b-8d1f5b0f2638 CAID:CA2837995559 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee9867f0-0d47-430a-9848-299254cfa3c2 CAID:CA2837995559 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53691185-b3cb-449e-bddb-cc85f92dbf8d CLINVAR:285153 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15baf04e-0a04-4ec5-9327-b63584597ecb CLINVAR:285153 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f56e92a7-afd0-470b-9c80-4ff2e70a322e CLINVAR:290283 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b4f33935-e060-48fc-ad4c-fe3dda67b0a7 CLINVAR:290283 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5739387d-8be1-4a00-92d8-33cccedd9682 CLINVAR:217223 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7df915e1-bc0a-41cd-856e-ecb4c4ad0366 CLINVAR:217223 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 703b678e-71ec-4c14-a779-27177f363d4c CLINVAR:100333 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6e7b0ef-c945-43a7-a6a5-26914c73e52b CLINVAR:100333 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b92f2ed7-3d02-47ad-92ec-79e2847939a5 CLINVAR:100316 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 799ece1d-5cc9-4a6d-9aac-36d984b72b66 CLINVAR:100316 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08c86563-8e2f-4782-9deb-bb26a4c62dbb CLINVAR:100340 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ef464403-b38b-4cb5-84cd-240c37b6941b CLINVAR:100340 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f602723-d759-417b-816b-cceb11f81fb0 CLINVAR:100395 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 90b55caf-f150-46ac-b7f0-a70c65b708f5 CLINVAR:100395 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18dcbb01-2ef3-427b-945b-9d33353a0c17 CLINVAR:2504480 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa8a4ec6-b390-462a-bac1-71a54d4dafe5 CLINVAR:2504480 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77c53329-fec6-4c2d-8ce4-9ce75e1a234f CLINVAR:619741 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1ad4728a-86ac-4d30-a96d-e8ac9c92a670 CLINVAR:619741 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce397059-5fca-47f8-b22f-34617209b0fc CLINVAR:100314 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 79e7fa79-2d84-44e0-940d-0c6889764bc6 CLINVAR:100314 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56130340-41d7-4fbc-8781-246775b0f6ed CLINVAR:31012 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 268394a7-1d65-43b0-a29e-df726e54ece5 CLINVAR:31012 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba95f974-3f56-4458-b2df-e70ccdb63e0f CLINVAR:102691 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74ad3f52-b217-47cb-9f91-b073dd374c36 CLINVAR:102691 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 333905a7-4c62-4247-a294-8491a242f08d CLINVAR:102690 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 902ae10d-e254-40bd-8ed3-d4dabe978177 CLINVAR:102690 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7952e8c-fef3-4093-a510-05b4bcb13374 CLINVAR:3771197 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4affae03-9d48-4f50-a600-352472f94c63 CLINVAR:3771197 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cb40564-559c-46fa-a239-8bca6613a457 CLINVAR:102898 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 643b0c26-f56f-49e5-850c-0b07152b39da CLINVAR:102898 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c21f4666-720f-4c78-bfb9-8bc02547fe98 CAID:CA16020893 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80748880-78b8-44e3-b8fa-97aa9d469f52 CAID:CA16020893 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57faa2ed-5ab4-486e-aa9d-dddb20434a2b CAID:CA16020753 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 419ad96c-a4c2-4f6d-a1ad-93793e7274f6 CAID:CA16020753 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48b982bd-3d77-4b8b-88eb-daab3c519e1d CLINVAR:4526408 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67e4f85a-7c1e-4b95-a26c-78ba5549daa8 CLINVAR:4526408 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fd5a958-deef-49d1-aefa-33cdfc9981af CLINVAR:1337271 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dc0b1a19-ce74-4df1-8b35-566b3ece4459 CLINVAR:1337271 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98e8dafd-49d2-43e1-b77e-acbdcfce5498 CLINVAR:4526409 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09484eb9-9670-43bf-a9d4-a245af1b96c6 CLINVAR:4526409 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19cfea92-cbb8-4565-9a15-5ed8dc4c31e0 CLINVAR:4526410 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b37d58fe-4356-4c7e-939b-be6078fc95cc CLINVAR:4526410 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1de44806-6e63-422a-bb70-f45ea6657bd3 CLINVAR:4526411 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 62999f7e-456d-4219-9486-db4cc9a02dc1 CLINVAR:4526411 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ed432b-8000-4d0b-96ab-965cb17a7a8e CLINVAR:4526412 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a0d7468-c5e8-4d4e-a577-e1d46f8a3fc3 CLINVAR:4526412 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a209d902-d490-42b1-a3e7-30b4bc947fbd CLINVAR:4526413 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc874dfe-e105-4165-af6b-d9f7eb60cbcd CLINVAR:4526413 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9098125-dfc9-412e-9e1e-bb8a0cbab745 CLINVAR:1299755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7dada48e-41fe-4de0-b28c-0da080d6df9f CLINVAR:1299755 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20c71c4d-4e2a-416f-b07b-b55c1d8a5001 CLINVAR:1184991 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9b342c38-78ab-406b-afc4-14e227d557b6 CLINVAR:1184991 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a6ccaa-5644-47d8-b235-0bf8a7def2d7 CLINVAR:639529 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abcaec99-9462-4d0b-9e2b-8e2c35f76666 CLINVAR:639529 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d10b61f9-60d0-4e5b-af6b-35ce7e3d493a CAID:CA2586965986 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9165e6e-3d5f-4947-b32d-baa2d0e0cd50 CAID:CA2586965986 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ae26055-a260-4a65-8095-efe8a2788abe CAID:CA355961124 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54f05006-204b-43bc-984c-3b57ea6e69dc CAID:CA355961124 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4ab41d9-bd78-4720-8f96-7cdbca269f41 CLINVAR:2432701 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 24042c00-458d-4028-b7b2-e161174d1651 CLINVAR:2432701 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a20b9c28-7f34-41d9-967f-eb303c8da618 CLINVAR:712785 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 41410c58-ccbd-466c-bd65-d6a10efb75ed CLINVAR:712785 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c1e2e86-3b77-42ab-9aea-25c7592f8f1e CLINVAR:2169563 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e9da78fa-7d45-40cc-9aa6-794083697247 CLINVAR:2169563 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff1f62c-3d03-4490-8999-87b2b63e1c9a CLINVAR:422096 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32142969-0860-4b28-969e-b9c58158cabd CLINVAR:422096 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0530da80-f8da-4c25-b49c-ea326cc765ef CLINVAR:140907 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 244fb6f2-dc77-474b-95de-c6a717c8aec2 CLINVAR:140907 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e30303ca-3eac-4c30-9725-c0b332071e41 CAID:CA2580610837 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a63974b4-9206-4995-874f-03297ca83861 CAID:CA2580610837 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e506b96-aa28-46f8-b8d8-c1c8969044fa CAID:CA2695215245 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b491d1a3-de47-4526-ac6d-3b2c04c6e692 CAID:CA2695215245 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1231385-ce41-4c3c-9574-fbdcd452d78c CLINVAR:407525 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45c57c9c-3c34-4b79-a4f1-6be4483dc753 CLINVAR:407525 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dff7e8a-05fe-4bdb-8333-978bd8c7c39c CLINVAR:4281695 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 30ef0f9a-dd80-4695-b071-d94a8c8f1a9a CLINVAR:4281695 biolink:is_sequence_variant_of HGNC:28519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8868d937-87fd-4c4c-be5b-4e629c754fec CLINVAR:2780229 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e5213e3-eab2-4ed3-a324-f80882ea9f4a CLINVAR:2780229 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88178d8f-cf11-4868-9010-7395a2658109 CLINVAR:220763 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 69549feb-fec4-46f4-969d-92b013a6173b CLINVAR:220763 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acf89970-8d0a-4c92-a49e-e61f57549631 CLINVAR:938483 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e377f458-a6f8-4a94-b0c6-fbffa9334330 CLINVAR:938483 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 240cce2e-eba8-4f51-817a-2057d19d7fd6 CLINVAR:2780233 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89ecfd49-6bed-4409-9b92-12963f04a0fc CLINVAR:2780233 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc2b3bef-f66b-48e3-b73e-9d4eb01a76c3 CLINVAR:634428 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a29b985b-6d58-4888-b03b-a66fecb6bc98 CLINVAR:634428 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af28c7df-bb5b-42f8-877e-faa0e30bd73f CLINVAR:254753 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 88575c1c-c74a-4e6f-8d53-a3bd75c52e26 CLINVAR:254753 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ffe48a-5867-4620-8be8-468292c69460 CLINVAR:2734039 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1aff3fec-c018-4134-b9eb-35ff66fb3b32 CLINVAR:2734039 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7ed1cf7-f306-4420-9f6b-bfc8795af41c CLINVAR:1066706 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0ecaabb-46ce-42ea-b347-647f4afb576c CLINVAR:1066706 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6c3411e-5878-48d3-808f-f39ee3a18581 CLINVAR:1454754 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 030ccd2f-73c8-41eb-aa28-7a88d6bc97f8 CLINVAR:1454754 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcc5da1c-5128-4705-bc4a-9ce9e19ead46 CLINVAR:120269 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2d7609ed-c303-441b-9267-f9a455da47bb CLINVAR:120269 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 268c572d-5ec8-400c-8d12-66a72d5d7f24 CLINVAR:561237 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5466cdd9-d465-48d6-b0b8-b318837d7c18 CLINVAR:561237 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee685d9e-c9b0-4f27-8606-905dcf8873d0 CLINVAR:189996 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c0272542-fdda-41bf-ae98-fe2ed6855669 CLINVAR:189996 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac616941-2579-46b5-8cb7-2f89dc45d329 CLINVAR:646006 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ad37412-cb3f-4451-a4de-2a72b9f03806 CLINVAR:646006 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fa1aa1c-2451-4eed-8b90-a0b534106ae3 CLINVAR:428265 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 836173df-68e6-4493-85c8-bbbec88de096 CLINVAR:428265 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a37229db-c98f-4107-97ca-bf5f57562433 CLINVAR:1514764 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a3f2be65-9914-4152-8a79-74e635d2731c CLINVAR:1514764 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a971272b-2407-4ea2-95bf-94eea7e4ee45 CLINVAR:985518 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9e63117-c572-4a0c-8db3-baa4b4cc4124 CLINVAR:985518 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33a6c6f3-a2c0-44cd-96fc-df2b9ce35532 CLINVAR:978723 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e2510a7-a5c6-4596-b8cd-246d12fc4638 CLINVAR:978723 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66f92173-7587-479a-a15d-cd7ffc66df00 CLINVAR:155885 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1beb26cf-fe91-466e-aa04-8c6d3998300f CLINVAR:155885 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da84f44e-2430-4ab9-a222-3be2160da6b9 CAID:CA6831693 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6319ad1f-a58c-4769-b429-8b821968a387 CAID:CA6831693 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aba83b1-9902-4820-a90d-7476a0a4af75 CLINVAR:3341140 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 641fa854-18d1-4d23-a3ce-9558a6271e3f CLINVAR:3341140 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c633b99-706f-4224-b332-f0fea57de491 CLINVAR:2580863 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44f6dd55-3cbc-40ac-aa64-d2a25276e0de CLINVAR:2580863 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90481323-98de-46aa-bcd8-64fb3b2b57aa CLINVAR:2580855 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0904c6e9-8522-4991-ba1e-ee7327da0314 CLINVAR:2580855 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f88822eb-92cf-4c0b-ad80-8d44046d3c45 CLINVAR:1405403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5526087b-30e0-495d-989b-56b561f0e3a0 CLINVAR:1405403 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc2cbb1-e4e6-4bc4-855e-275c8c5c12b5 CLINVAR:9623 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a74fb5e9-dcc8-4d99-bc9c-208e6797cf12 CLINVAR:9623 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0344a41-70c8-42e9-9d1f-bb4767ddf416 CLINVAR:30000 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a2bd8c7e-4cd5-4ffd-a363-1832818f9646 CLINVAR:30000 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96faad7f-26b5-4611-8904-413a75c464f1 CLINVAR:440611 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0f39e43d-9373-42bf-8e6f-557d7e31be86 CLINVAR:440611 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e419e41-5330-4525-b5e2-5cce4afe3cc1 CLINVAR:690211 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0aca8cd1-4fa3-41e8-969b-5dc432eee1df CLINVAR:690211 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51886151-9e37-4056-bd3b-599ddf9b882a CLINVAR:690233 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 67e017f8-e147-4651-86ec-00a88561833a CLINVAR:690233 biolink:is_sequence_variant_of HGNC:7499 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67b28c88-1917-4acd-9848-523a52b014ee CLINVAR:9614 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8965d917-b59f-4580-a037-e27b429611a7 CLINVAR:9614 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ac64296-d5d3-48da-9ccc-f54f6d6f7b00 CLINVAR:9621 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8fb35f48-939d-4cc3-9398-d87c7e077d75 CLINVAR:9621 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b36c0d-4012-4a82-8621-3d4ac49b0cb2 CLINVAR:560167 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6199d485-d6d2-4d64-9170-3c07768515fd CLINVAR:560167 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a187575a-bfdf-44eb-970c-fa476afed748 CLINVAR:9574 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 09aad4d1-c79f-4a57-80c9-ceb3bca96da6 CLINVAR:9574 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52ff8df0-bd85-4b6c-96f6-d44cecb7a7bc CLINVAR:9577 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6852a4f1-e08c-420d-b3f0-897575507413 CLINVAR:9577 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06596ad0-a377-4020-8b96-7c84252ab3d9 CLINVAR:9585 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1f0d91b4-b6f4-4f38-8cb1-33c5e65de3dc CLINVAR:9585 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a612923-ef7f-4b9b-92f0-470ac9064110 CLINVAR:690084 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64143236-59e5-462f-b329-519104274d57 CLINVAR:690084 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e81eff6-2925-436a-ab12-97a50ce3b947 CLINVAR:693047 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 178e6e98-1ef4-4a83-b5b8-a0918cc3b6fa CLINVAR:693047 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b77f9576-d6c9-4264-9089-114d808edeb7 CLINVAR:418437 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3b709836-dec6-4b21-a8e3-11d865a4c920 CLINVAR:418437 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b9c60e1-6b23-43c1-922c-734299fe5aae CLINVAR:692427 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e572436-951a-4cc7-9b19-f87bd09c113b CLINVAR:692427 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ea71aa7-983f-414a-8c45-70f1766e4bac CLINVAR:2682110 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e9234b5-ce14-4905-9467-d772ddb09c89 CLINVAR:2682110 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fee45b7-c2c2-4735-8861-65664926a89b CLINVAR:1191879 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 94143591-dd36-49dd-9a30-858c04b1e783 CLINVAR:1191879 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac360ec-c09f-4ec1-ae19-41e13369ab60 CLINVAR:689873 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 438a8327-b722-4120-b418-1747937f10cd CLINVAR:692717 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2c911e93-1c29-426d-be13-b90f3e88114e CLINVAR:692717 biolink:is_sequence_variant_of HGNC:7419 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d86eaf0a-7634-44c4-bad7-f9c52590f73e CLINVAR:869395 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a09db140-9e59-4f0f-800c-82bd9a465053 CLINVAR:869395 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 574b845d-aeaa-472c-a236-1d87491a0cb4 CLINVAR:2328709 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f4924f2f-c162-4037-91a1-84c32676de69 CLINVAR:2328709 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85c24982-9f7c-47d1-9e12-4bb6f9d809fe CLINVAR:2074473 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6eafae9c-a4a1-4d48-b18c-f4ff1aa371c7 CLINVAR:2074473 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4be48c88-3c30-4ba7-9ab2-79bd052f212b CLINVAR:1677264 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02bf848a-c5ee-43e4-99c1-bf3f26a4ec1c CLINVAR:1677264 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f91362b-b43b-4e89-9504-0e5db1facba4 CLINVAR:3902269 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c9ddad8-ea15-41a1-9398-ecab1df93105 CLINVAR:3902269 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e6f3d7f-f560-4dea-b931-a22fb96895ae CAID:CA8314813 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ef6b1094-f09a-4967-9358-c46672e0b4f7 CAID:CA8314813 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1fc9dbf-b297-4e81-8f33-fb7310890071 CAID:CA397319104 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ff9ba9a1-67e0-4eb5-8126-ec22a8f9d5fc CAID:CA397319104 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 817af065-ce34-4b6d-8ceb-a108563a5919 CAID:CA2695224148 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a386307-7506-4af6-8367-3d1bbb9f7707 CAID:CA2695224148 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adbbe8e0-d24b-49fc-aad0-6ca69cf1d4ec CAID:CA2580610939 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b1e38061-0320-46e4-965b-0c301d3127a1 CAID:CA2580610939 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90213985-155a-4030-a538-baf85b66e0ae CLINVAR:3251584 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen aaccf55d-81d6-4029-ab2a-19cc8e1d4377 CLINVAR:3251584 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b2ec9e3-6203-42f5-8c94-764a638b3070 CAID:CA2695224150 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f2befdee-d4e5-47ec-9c37-4e658696fc66 CAID:CA2695224150 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2a3730-4f7f-4ded-b83a-326e0cb9e043 CAID:CA2580610940 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 509e9ac1-1ce7-4013-b108-14ab8f652c0e CAID:CA2580610940 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf380e13-e12e-46fb-94fe-aca813650507 CAID:CA354447939 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5ecd408d-9349-4745-ba1f-137da8c72751 CAID:CA354447939 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c61e944-7565-434e-bad5-d67a167d5546 CLINVAR:1684385 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a497f11a-2b37-4897-9103-0f76be96b9b7 CLINVAR:1684385 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e96e73-309f-4820-9dd2-099d33b792c5 CLINVAR:693512 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a893600b-c970-4584-8145-74c2f8368e64 CLINVAR:693512 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 656be22a-0071-45fa-ab1f-58aaa0b2f2dc CLINVAR:370052 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc81be21-ec0e-4ecc-abb5-62ed212336ee CLINVAR:370052 biolink:is_sequence_variant_of HGNC:7422 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8ca9b90-9b5c-45d5-b851-e0c5afcc9a77 CLINVAR:690112 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen def75b73-6e88-4f7c-85a8-6e9c60a7152f CLINVAR:690112 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c709b0f1-a090-4fcc-b393-617cbfe5845d CLINVAR:290141 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 662707b4-7efa-4c7b-94e1-a1215f9e7d89 CLINVAR:290141 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7461b2a-db33-4eb4-b10f-0edd4316e2ad CLINVAR:290284 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b48ff55c-035c-4734-a1f5-9346f48dc0c8 CLINVAR:290284 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be529cea-3d4f-4917-949d-3140125a4adc CLINVAR:94269 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2d860793-2ec0-4f68-8891-fec8d2ca6043 CLINVAR:94269 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b8cca1d-6d0d-4c44-bbec-f4724f01f8d6 CLINVAR:284254 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a5b3502-b53b-45ac-af78-27953524cbb3 CLINVAR:284254 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be2eb613-4cf0-46fc-89e7-2e5e9cfd3719 CLINVAR:281062 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 46e371f2-d51e-4da8-a6de-4c8b8b6228c6 CLINVAR:281062 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 817e0933-f564-4362-b0a6-e77573fcf0e8 CLINVAR:290309 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a91bef1a-b0fe-4998-b488-5487bda2ca55 CLINVAR:290309 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbcc2932-d1a2-4b72-a184-3bafeb7cf79f CLINVAR:94367 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a62993f3-de84-4c41-bc5e-7e5c8979ccd8 CLINVAR:94367 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53ed8d63-5155-4a72-90bb-811318b09ea6 CLINVAR:973317 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8fd987f0-da02-4d0e-a347-1407c51ba052 CLINVAR:973317 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45bc15a4-8cda-4206-be2a-f69d16bdd212 CLINVAR:2758089 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eaf78316-1a16-4edf-97da-2b3841152683 CLINVAR:2758089 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d7b2063-acbc-46af-b021-8497c31885be CLINVAR:1444196 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6a1cd187-1efd-4087-8820-30a844a8f34d CLINVAR:1444196 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7edaf2a8-04bf-4412-8ca2-e6aeec8a73ee CLINVAR:595306 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 750b33a4-1f1c-4dcb-a1dc-039bbc5a9d79 CLINVAR:595306 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99384a59-d64b-49d3-9623-7f0d04932ff3 CLINVAR:468639 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4e5aff4b-37f2-4d7b-9549-e55ec455c6bb CLINVAR:468639 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af8c7a61-ba24-4301-9d9f-76c1dc9f6871 CLINVAR:2137655 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a88e727-8473-4c79-9986-97ead45e0f4c CLINVAR:2137655 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dee1c83-c860-4518-8ef7-cceb21c41c7a CLINVAR:555770 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 364b9ed2-254b-44d3-be11-2b0f1e88e4ee CLINVAR:555770 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6941f21f-028f-4117-ba0b-e3bda3eac350 CAID:CA3050533369 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51bb3d60-0d29-476b-a029-922a019e3ebe CAID:CA3050533369 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7b115d0-1428-41de-be79-c3b0a7e9bf24 CLINVAR:963357 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03e43511-c3ae-43c4-9f60-fa767df10927 CLINVAR:963357 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 516fdaf8-90f1-46f5-9a20-6cc7bf77366c CLINVAR:9678 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80137d07-1bf3-4a0a-84aa-1706da3d1da9 CLINVAR:9678 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a96aebf-72b5-477f-9c89-80f55a18758d CLINVAR:422744 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1cd26ff5-f5ed-4910-84e2-261cc840c9c3 CLINVAR:422744 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34a12c68-02af-4d2d-ad55-b7ea9888017a CLINVAR:2688626 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d7ceaa3-1d46-4d07-80bb-dce5f6a50d1e CLINVAR:2688626 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 801f3d59-765d-447a-8964-b082c267afb4 CLINVAR:483466 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d72e531a-f5c2-4152-a9d3-f0c67684bde3 CLINVAR:483466 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fec96f8-b6bb-4558-8dfc-6cd95950ba19 CLINVAR:933019 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 44ed4c33-ccca-48b3-940b-c6da47f82d2e CLINVAR:933019 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f1dda69-0d63-46c4-9b05-9cb12bd9129a CLINVAR:1718629 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64908888-959b-42d7-acab-6084fb182743 CLINVAR:1718629 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3140aeb-5633-4965-bf77-b1040a92a5aa CLINVAR:543626 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 04e85a8f-7492-448e-a74f-e4356dd0bdf5 CLINVAR:543626 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17680a06-a1ea-4efa-af10-2b1567c0c1c6 CLINVAR:571148 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 405c7106-ae34-4ed4-89ff-17ca2f9b60e8 CLINVAR:571148 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f62d3716-5920-4688-ac60-e7f12a502cd2 CLINVAR:933054 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d8474f14-5746-4436-b77c-a5ef5c56ecd2 CLINVAR:933054 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec97f923-5e66-4fc8-b3ae-2e8f35079464 CLINVAR:485533 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1ab2a96-97fc-4add-99e0-54275ff3fd14 CLINVAR:485533 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba79bbd6-1f93-48b2-9a9b-5617af227cfc CLINVAR:1055290 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a234a886-5b48-4baa-ab31-f7f61a46b942 CLINVAR:1055290 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 077eb812-9d84-4bbc-b84a-568fdb34d97a CLINVAR:412195 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f935bb39-6227-4884-9b78-7c0608647041 CLINVAR:412195 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f38bee29-b099-46c7-9faa-ee86c2043189 CLINVAR:819257 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51b26ec4-1735-476e-982a-3c42b5a791b0 CLINVAR:819257 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2ba02d0-e690-44d4-83a0-87d2a5432347 CLINVAR:1057551 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81f5fc9e-d066-4fba-854d-d52b1ea03b15 CLINVAR:1057551 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbb41817-5288-40e6-8f24-4b5a54a32a1a CLINVAR:3393370 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a02041f-18e3-48f3-8036-2ec5cba139cc CLINVAR:3393370 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8deff0f9-125d-4ab4-9d4b-8e18a2947c75 CLINVAR:45191 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 80b6887c-15f2-49b1-9e30-b241bbbe7e4d CLINVAR:45191 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3653629b-4662-4559-bfcd-304fe2e52746 CLINVAR:920028 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f13c787-27e9-4e87-9b48-5bf9b734b8c6 CLINVAR:920028 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58ef6c93-919d-4781-b4d9-2bcc6a5d2cb5 CLINVAR:42644 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecf0e04e-c45e-400d-bcfe-4fe91eec3423 CLINVAR:42644 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daea16e2-8b2a-444c-8fa9-2e7f4d70c68b CLINVAR:42541 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1bc1e766-16c3-406e-a789-827d00198196 CLINVAR:42541 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fa831d6-a502-4bd6-80a0-9eae3f154388 CLINVAR:42540 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bf944667-a07b-4497-b08f-0c6da9b6a6f0 CLINVAR:42540 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e90fe2ec-30b8-4dfb-86a6-ed3e1a84baec CLINVAR:42744 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e27e8c6c-e865-48c8-8918-6cec641cfd1e CLINVAR:42744 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8925a819-ab7c-4fea-8166-3543ec8abb97 CLINVAR:42827 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f98e8b8b-99fe-4d1f-94a6-51ae645c2ee0 CLINVAR:42827 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac11fec5-e656-4d8c-95b0-5acdc0b1fe8f CLINVAR:423350 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f480b168-3a90-490d-b17f-d84a313c0e9d CLINVAR:423350 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 000669b8-b313-4c3d-a730-4ca0da270bbf CLINVAR:177824 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac202094-c113-4255-8a1d-a8b2efb0bf30 CLINVAR:177824 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7784a53-98f4-490b-9e52-5fa4579fcc52 CLINVAR:43121 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea28449b-9fb8-4a3c-af5e-7bcb9a62e402 CLINVAR:43121 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a520970a-58c9-469e-b33a-2b007caa7cff CLINVAR:31780 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0caf5ffa-1674-478f-bed1-54ab72f68549 CLINVAR:31780 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62f26756-ed33-4b63-b80d-f7690f0a74f6 CLINVAR:165510 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 49e04aef-7f6d-4bd5-ace0-1acd7ffcc9da CLINVAR:165510 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cb96568-e03a-4fc7-9127-74e774bd9ce6 CLINVAR:12424 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e3d547b-b0ea-41df-8537-88ddc9756d2b CLINVAR:12424 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 270f3f3f-d05c-40e2-a87d-0ba2f90adb48 CLINVAR:927565 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 060ed2b1-fa37-4f62-8a80-e5c05ef612a4 CLINVAR:927565 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aea81d05-7025-49ea-bf2a-c19de3568107 CLINVAR:43628 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 662d07c1-5abb-4ea0-a5f4-dfd814e81029 CLINVAR:43628 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ef98200-4521-4bc5-b7ef-99c0cdb6feed CLINVAR:43648 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cc4d5a9b-ea67-4a8e-995d-49a020e03e8b CLINVAR:43648 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9251400-d2e3-4cdf-8064-3000d3685a65 CLINVAR:43676 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6608f7a1-4425-4dc1-8786-c18e6b972700 CLINVAR:43676 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfb176b1-4b96-4564-89fd-8bb0fa0abecb CLINVAR:31885 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a9f050a0-bfc0-46d1-a8e6-77c0dde415e7 CLINVAR:31885 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cc19c34-299d-48f0-aa0e-0aaa84665e24 CLINVAR:18331 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f8f31de7-4e58-45b6-beec-0f011f88ec58 CLINVAR:18331 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec29dbd7-b230-4745-a7a6-cf3146d4edf5 CAID:CA391629069 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 10fc643b-47f7-4444-b8ea-687c480835d4 CAID:CA391629069 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 714345e3-40d3-4980-ad44-3e1ae08de249 CAID:CA391629706 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c047fe15-afcf-454a-87ae-2c74f62300e9 CAID:CA391629706 biolink:is_sequence_variant_of HGNC:143 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b22568ba-df8d-424b-b77a-ec11713a2763 CLINVAR:164113 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f890233b-2ac7-49de-97ef-4f9424bdbd57 CLINVAR:164113 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26b26631-4115-4701-8197-5718e8828582 CLINVAR:42537 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2bcccf44-de18-4a2d-8e17-62b6da1f9873 CLINVAR:42537 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de600811-f75a-4dd2-8b2b-c2e4c84b88db CLINVAR:164114 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0208e236-fe6d-4dd8-96b6-64540cf35a1c CLINVAR:164114 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5930c917-ed98-4dcd-af72-e22dcff5fb66 CLINVAR:164070 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 724ca6c9-21fb-45cb-b4bc-7ffe649182df CLINVAR:164070 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eecc7510-503a-496a-9ccc-85a7ca08f5a7 CLINVAR:164379 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 08cc64f8-8d89-4395-80c0-10dbbd316aee CLINVAR:164379 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04d9d128-ebb4-4a4a-9d3d-7db3aeaef70e CLINVAR:177780 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d398405-25ac-4339-81cf-83a5d0bd3d6f CLINVAR:177780 biolink:is_sequence_variant_of HGNC:7551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5f462e7-2a41-4dc4-89b8-17f89c876efc CLINVAR:132976 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 524af235-37c3-49a9-9417-93b9dde88924 CLINVAR:132976 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8aed178-3e35-454d-9027-5a59529b401e CLINVAR:43479 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccd455d5-3f50-4315-a8ed-8dc56b6b7dca CLINVAR:43479 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f234693-40ee-4221-989f-016170ceadd6 CLINVAR:43458 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d88c4d5-5f76-4cb3-b62a-722d050485b9 CLINVAR:43458 biolink:is_sequence_variant_of HGNC:7583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 516a16c6-2ff6-46bb-a68a-980e5571f60d CLINVAR:43124 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2d1e8e4-9c03-420a-aa59-2391e76b4a41 CLINVAR:43124 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd3f3cc5-3ad4-4544-92c6-962499f5ca1e CLINVAR:14062 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c17bc68a-c9d1-4ec3-b387-5da200531488 CLINVAR:14062 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6e31cfb-470a-4039-8fe0-f65cecd572e5 CLINVAR:14063 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 858d469d-5fc2-4da5-acaf-6c19a73caea8 CLINVAR:14063 biolink:is_sequence_variant_of HGNC:7584 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c67bd74-4b26-4664-bf1a-7dada52fd085 CLINVAR:43389 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5bf2a19e-b424-4b9a-94bb-ba58ffa1f6af CLINVAR:43389 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3679876-591e-4853-8d05-4ed0cfd31ec8 CLINVAR:161396 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8639941-d396-4a57-85e5-e9f597568803 CLINVAR:161396 biolink:is_sequence_variant_of HGNC:11947 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f6f9763-6d71-407d-ac22-aca7c3609241 CLINVAR:43673 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c75444aa-d052-4def-839a-d920a3453acf CLINVAR:43673 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fffa311-0844-454f-8e2a-a89ef2e1fb4a CLINVAR:177636 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 29b0678a-c0ed-46f8-9158-be1f00dc922a CLINVAR:177636 biolink:is_sequence_variant_of HGNC:11949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d968c40-ebb2-48c6-8166-85a7bb5a8947 CLINVAR:3328288 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46ecf5f0-558c-493a-8f3f-06b4da584708 CLINVAR:3328288 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c07144-b388-45f2-b5f3-79f9bd772890 CLINVAR:43424 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ca38ba6-c5f1-435b-9ef1-69303854143c CLINVAR:43424 biolink:is_sequence_variant_of HGNC:12010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e631d94-3b0e-427e-a696-880f81dd1ced CLINVAR:7888 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8e13c84-d407-4d7d-8c1e-10730eeb7a58 CLINVAR:7888 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 698e666e-6545-470e-b10c-183f1e24a715 CLINVAR:866421 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 46e97d4b-426f-48ba-ab15-4218908acc60 CLINVAR:866421 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74642767-3bdf-485b-8ec9-48d0cfa5f208 CLINVAR:99035 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7b6605f3-f5d4-46e8-a82c-53cd6212b855 CLINVAR:99035 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc868f2-8b90-4335-8e07-a906cb62e24d CLINVAR:298228 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 496ce65c-8929-4599-9e78-51ab944ee167 CLINVAR:298228 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4cd992e-995d-4c08-9c6d-51a6d0624c53 CLINVAR:99108 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 19a012ce-b754-48d3-9c15-824dc16e43de CLINVAR:99108 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 793ab950-8b11-4411-93ff-1f1ecf2d9310 CLINVAR:7736 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e761bb7-06f0-4942-abb2-b066b84ffe45 CLINVAR:7736 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d30e298a-6a62-454d-a857-352ee20eb8d6 CLINVAR:30224 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa004d47-dcf9-40e6-aa14-430dfea0fb56 CLINVAR:30224 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db7dc865-9196-4fee-b6f1-e95aabfd2f52 CLINVAR:7737 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60f7f9d1-a5f9-43a5-a257-52981cca9f7d CLINVAR:7737 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14b46952-f73f-4f6f-80d5-0d9f869b3603 CLINVAR:3251815 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 86e67fa2-b65b-4c07-8609-53fa9f885e55 CLINVAR:3251815 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a37caddf-6ea5-42bc-9b5a-1307114c2f74 CAID:CA346329774 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5df2e726-42bb-462a-a837-5e8d2c6c0915 CAID:CA346329774 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4949054b-9703-43c8-a1e0-ff8eb5e1fc9c CLINVAR:7730 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ba916236-b342-4da3-b32d-a7d89bddefca CLINVAR:7730 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fd759a0-7110-458b-b6f1-08c69919bd21 CLINVAR:2577219 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b1e82bda-eb6e-4cda-a1a4-9d7cb356c4b4 CLINVAR:2577219 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 616c6ba0-d560-43e5-8c61-a9ac87a66e58 CLINVAR:813356 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4fd9a0e3-17e9-4f6f-8c26-19702e555160 CLINVAR:813356 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d13baee8-f855-4cd7-8742-495c13c31a7b CLINVAR:3586583 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8c3c6ad-f65a-4ce5-abe7-f11fe2b9ea7b CLINVAR:3586583 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5afd73c-82d2-43b6-86aa-9172172880c7 CLINVAR:895383 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c6e265fe-cf68-44e6-ad09-e9b5281c64bb CLINVAR:895383 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6776c5b6-0e85-486b-a349-06c078c03606 CLINVAR:1329081 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c74d4f09-a639-41df-834b-1d102d9075fe CLINVAR:1329081 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8a9a92a-0d94-4d79-8538-f5768d441c83 CLINVAR:1120045 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e33d6f72-1547-4161-a3d5-5ee0e92b7142 CLINVAR:1120045 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be51834d-2b47-420b-b14a-48cde4241046 CLINVAR:402578 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6386681a-9d5c-49c5-97ca-2f2e25506cfc CLINVAR:402578 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01de4a77-8ac0-49f0-bc52-6f132047521d CLINVAR:1322184 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 625d26a3-bcd9-4870-a1eb-e8f365c0c70f CLINVAR:1322184 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94bda65d-6bca-4d09-b2de-86cadb66938e CLINVAR:523943 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40c6f2b9-44b8-4ff1-929d-6291cecce48b CLINVAR:523943 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3321b55-580a-45a7-94dd-19731824d682 CLINVAR:1338800 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 033f17d5-48e8-4f8d-8696-0ada7eb58ae7 CLINVAR:1338800 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbd7a962-2bb5-43eb-b631-40f99892622c CAID:CA346328519 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 829ca1d8-8a58-4d76-b180-fdf3d1bde66e CAID:CA346328519 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e62ffb-ac8d-4b99-9c83-aec416a1ea11 CLINVAR:1335387 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0433e67b-37e8-4e09-899c-e498fb3a3443 CLINVAR:1335387 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7273df7-24c3-43c3-a757-54fc87ce3065 CLINVAR:68468 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42bed707-4b72-4753-a3b2-4e1efb70dc87 CLINVAR:68468 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fff7382-b93c-47de-8c32-742a4d54c744 CAID:CA346328326 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5cf0724b-d498-4d50-aa35-6466f5712d5c CAID:CA346328326 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08963aab-a544-4947-8d55-8d57a70a7158 CLINVAR:632362 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d1d3b656-0e61-4c13-8b06-0c3c4a95ce23 CLINVAR:632362 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f21c9634-f312-4733-b40d-7c362907cc2b CLINVAR:2681127 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6800b735-8b39-45df-9f93-fee12f3480b2 CLINVAR:2681127 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83cedc0d-7257-4a20-bbbb-807961befa27 CAID:CA346327976 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cd5507d-4af4-4389-8e2c-7cb518823caf CAID:CA346327976 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f393434-8aef-427f-87e4-cdd3e066c8f7 CLINVAR:1339135 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 922fa1c8-74d9-4b31-bfd4-4da3b41515b6 CLINVAR:1339135 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffcdcfb4-fa10-4a3a-bb3c-226d97a2f525 CLINVAR:1412564 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b9c2c193-e1a9-45c1-a992-599b94f8377f CLINVAR:1412564 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2cd0f1e-3071-40c3-8ba7-2ccb781dc0c7 CLINVAR:282564 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cf1c48c9-8eb3-4ee8-9225-6a9cd77c09dd CLINVAR:282564 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 801323b9-3cca-4c66-84ec-b1fb74ddc296 CLINVAR:1339668 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05c0b38a-7f91-47a9-95ea-39840ec8e393 CLINVAR:1339668 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aaef7f5-4bcb-4af0-94e8-2cd65f2c2811 CLINVAR:7732 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 61e558f7-3372-4797-88ef-7c2d925eb04b CLINVAR:7732 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ccc481d-c414-4c39-9c84-ee0ff2dc6845 CLINVAR:1489392 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 485484f4-95c0-46fa-8584-b18382d65f33 CLINVAR:1489392 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66575e78-361b-4dfe-9bea-869416999361 CLINVAR:7739 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 852697ee-cd20-4f15-950f-068877e0d0a9 CLINVAR:7739 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f71871d0-538c-4483-8557-a821074c4c9c CAID:CA346327851 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d7217ca8-6d9f-48cb-9fc6-3a238fa9a8a0 CAID:CA346327851 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa4019b2-2f3e-4d37-a3a9-63595475f887 CLINVAR:7734 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1ee65954-f2cf-47a1-962c-0bce4595335f CLINVAR:7734 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 562ea126-3db7-480b-9997-7b9d00e7c044 CLINVAR:7735 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8687305-4925-48a3-9ff5-5afc5bc4a1ec CLINVAR:7735 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 164c2351-97ba-4d08-a97f-3b8af0a9aa07 CLINVAR:2203048 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fc740a7c-d704-4a5e-b5b5-69876293db7e CLINVAR:2203048 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6293e77a-6b84-450e-9ed4-a13850e3c07b CLINVAR:335952 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ab4af78-e9c0-41f2-8d60-1e91fd144585 CLINVAR:335952 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6bcc85f-3341-4a88-a5e1-65049e464e36 CLINVAR:592512 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5f5d6849-3e16-46bb-b20c-48c67c35588b CLINVAR:592512 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a908498-0549-473d-ba39-fcb458075b7d CLINVAR:1331361 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d284cecc-a4c4-4d3d-9515-e09d541e7307 CLINVAR:1331361 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac0cce68-986d-4f71-8341-d0ce3f11a2be CLINVAR:68466 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b20617e8-5126-4306-af8d-d8f2ba47baee CLINVAR:68466 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29516830-f01b-4830-ad04-4509518fd95f CLINVAR:1254629 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfa14b03-d6a6-4ab6-8dff-fbf557a015c0 CLINVAR:1254629 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab2509a8-dc52-4912-8ee5-4f514b289980 CLINVAR:845455 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1ebfff6e-507a-4338-8296-9b5f3f8dbda8 CLINVAR:845455 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d35159c-a3c5-4ae6-8f89-f8247a4e69d2 CLINVAR:7733 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60054684-6049-4bf6-91db-0fa71e7e2adc CLINVAR:7733 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a059af5b-c853-44cd-981f-09f110e9e447 CLINVAR:96699 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b5528f6a-e025-49a8-b856-a793f6d6f794 CLINVAR:96699 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df0214ba-6099-4d67-9dcf-ea10960c3c24 CAID:CA346327121 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aa950aa8-beae-408c-8d09-ff0f21259a5a CAID:CA346327121 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7db79afc-dcf6-477c-9d04-2f33092751d4 CLINVAR:813355 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 212137df-4bed-4daf-a666-2de98e5771f7 CLINVAR:813355 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12ec903b-17fe-4209-a2ff-7aecc050de22 CAID:CA346326874 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a17acb7-7df9-414d-87ca-908c3a1b6997 CAID:CA346326874 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9eea2df-aa4c-4bc4-b359-8dfa9e12166d CAID:CA2580610860 biolink:genetically_associated_with MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b76c6679-da90-4cd8-b073-e91df8e38a50 CAID:CA2580610860 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 185786fd-178f-4ca5-b59d-b26c94f38533 CLINVAR:3777763 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 132ac74a-fa87-488b-9d52-134e9fb84836 CLINVAR:3777763 biolink:is_sequence_variant_of HGNC:2597 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 951d137b-47f5-4138-946f-899e464c67cb CLINVAR:68682 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7d24ae58-5990-480c-a465-25dd25ab9bbe CLINVAR:68682 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f17dccdb-f3eb-45bf-bb42-47fb3aa8b204 CLINVAR:976230 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72e11f65-88cf-41f9-bc89-4df6db4d8201 CLINVAR:976230 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccd47884-7a3a-42a5-9581-7fe64e1073c2 CLINVAR:1339536 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9849d960-452a-416a-998c-b7cb3fe0cd2f CLINVAR:1339536 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4857aa5-0213-4f71-bf9a-0b3fe9a537dc CLINVAR:572507 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c81aa554-28eb-4b81-9008-e8ae589f7ab3 CLINVAR:572507 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51e6d914-ec84-4357-a0d3-0fcf35e74e7c CLINVAR:191196 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41b75e87-a602-44fa-b1d1-46f67f8083bc CLINVAR:191196 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 307ca4c3-985f-47ce-9414-fba001019daf CLINVAR:1693469 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 093b34f9-ed97-4e0e-b19e-747c0e207935 CLINVAR:1693469 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deeb6ea3-348e-4c1d-8562-36e0a7a7824f CLINVAR:3251745 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e01a0b20-4116-424c-b0f5-fbe88a8651c9 CLINVAR:3251745 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61b388c3-3ea6-4cfd-abcf-f7eabdc79f75 CLINVAR:872164 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4bdfb572-c5dc-4139-8c1f-ea2ffcd262ca CLINVAR:872164 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19221d0f-4d60-47ff-945d-896e0ad22a4b CLINVAR:1453759 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f49d45a5-ea22-4799-afad-b8a4064f03a9 CLINVAR:1453759 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ea760e6-b6f8-4df1-9e1f-8b13659b2ab8 CLINVAR:68260 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 604984b1-88d5-4c44-baba-72fc304cde88 CLINVAR:68260 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 211aa213-8eeb-4841-898e-a6147fddc9ca CLINVAR:555264 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 001f8ecb-e8cd-4196-b8bd-c4ddefb3edbc CLINVAR:555264 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b501488f-e7de-4404-b89f-2dae7ea26e99 CLINVAR:36386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60a09672-0cac-4ac9-95b1-8df4a6edeb8a CLINVAR:36386 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fea5dd4-4a85-49f1-9bfc-e2dd84851270 CAID:CA386960044 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e2a00a5-c759-4025-aefd-8ee5289fbce5 CAID:CA386960044 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3f08ddb-4abb-47ef-b592-467825f7f5d6 CLINVAR:693061 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7e7db1bb-9d48-416e-a5f0-1b69ae78075f CLINVAR:693061 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 180d5767-e994-4d9c-b836-99e0d9075a2c CLINVAR:417982 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c6f60c6-a8b1-4f21-ae92-df2939d102f2 CLINVAR:417982 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5756766-08ea-432f-ba09-c07276946ca1 CLINVAR:298229 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64e2f0de-97ff-41f3-8387-d9a810c21868 CLINVAR:298229 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 518c297e-8f23-4e68-80e0-625f07fc9a99 CLINVAR:932889 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5a8b1472-029d-4fc8-91d2-21fdf3092be1 CLINVAR:932889 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9835aaa-6bb0-456b-8732-e114f0be6a2d CLINVAR:761732 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ff9f6cfa-f06b-4c26-814e-fc8d6104f18e CLINVAR:761732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2343dc82-7d5d-4d70-9873-7dc1986927fc CLINVAR:1481089 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a320990-0a07-4b82-82d1-10dd24f1d35c CLINVAR:1481089 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0ad6f76-b299-451f-a0a1-1cbd182ac73e CLINVAR:99430 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e78ff52a-81b0-4811-8407-b9e02a45de14 CLINVAR:99430 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5e09bec-fdb7-4904-8013-c0f6316b0e59 CLINVAR:289310 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d4a0a636-ac47-4007-baa6-927d59415369 CLINVAR:289310 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe7c8b0-e48c-4557-a2c5-f1b952cd0a5f CLINVAR:99403 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e1348da-2b9f-4793-acba-420740be5107 CLINVAR:99403 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e0c3c6c-cfe5-41cc-80be-5d1afb4c5dd0 CLINVAR:21013 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6a0a7bb3-3fad-4704-bc04-519f6ae2ce37 CLINVAR:21013 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e2a80d9-a600-4def-95f0-cdea8fb007ca CLINVAR:3384229 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3e61e491-6153-493b-a2db-efcdcf23045b CLINVAR:3384229 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58449744-a958-438f-9809-ac7e8b68690c CLINVAR:1337790 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dfab42fd-1292-48a5-8cb9-c0fd9f025c15 CLINVAR:1337790 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85f680ce-dcd5-418b-8388-fa5a255bfb96 CAID:CA367401432 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0175f649-8177-4af1-9260-fd445231186f CAID:CA367401432 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f23b86dc-3a0e-4027-894c-28426f34aa95 CLINVAR:265174 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89e45994-48bc-43c5-85c2-5962319ac38f CLINVAR:265174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03c98510-d5c9-41d7-91c5-6359c9991cad CAID:CA367401650 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ebff37cc-0727-47e8-b72a-ad0d7104f6e7 CAID:CA367401650 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39622c4a-20e5-4d05-933d-0d7273be2a36 CAID:CA367400605 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1637e722-e02b-4398-8fe9-d6bf4be60b80 CAID:CA367400605 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6804818-9b3c-4e48-86dd-bbf13d6668e1 CLINVAR:2735005 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 065f8782-08f0-4a15-8719-e4668ca11751 CLINVAR:2735005 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f2f1065-83a0-493d-8365-f129faf78ee9 CLINVAR:3720739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3935ce57-5cee-4622-9b31-445ddfca63be CLINVAR:3720739 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e65ecf57-2b53-469e-a2c9-a0d83ea44479 CLINVAR:804861 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8afd113b-c856-4f6e-9d56-a4b8bed6c2bd CLINVAR:804861 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75a03fe7-3ee2-4aef-abbd-473f4435accc CLINVAR:1700683 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36935929-7b33-4a41-8f72-d3d836d7cbdd CLINVAR:1700683 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf15bdae-cb28-4765-89b0-260021f44f75 CLINVAR:2137411 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen df500411-cc37-4a85-b27c-158cd50f272f CLINVAR:2137411 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ca5b0d1-04d5-4cfe-8336-57ac69c2c202 CLINVAR:2137408 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89e808b7-062d-450d-b8c4-0fabfcbdc90c CLINVAR:2137408 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b83b472-d18e-45f5-bda9-cf7b1f5f971e CLINVAR:102827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 072fefb3-9a90-4712-b5c6-b11fcaf03976 CLINVAR:102827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1149e29b-58d3-4939-bae8-dd0890ea58ce CAID:CA16020809 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11a75a0e-62a0-4476-8e8c-d0c67e6796e3 CAID:CA16020809 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f5b7b00-b475-4b16-a87d-639010197b8c CLINVAR:102497 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d37664b-0f6c-4514-bd02-dba16796af8f CLINVAR:102497 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b0e6610-bc06-4ec0-8041-9f728eb9786c CLINVAR:102797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6760942e-9061-4f91-9af0-b74832b920f1 CLINVAR:102797 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 631e0254-1a06-490c-845c-2aa109a80121 CLINVAR:102799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1abfac95-5f4d-46da-b4ed-543f708412a0 CLINVAR:102799 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 213657e8-bf32-493c-9725-f653330fd366 CLINVAR:102732 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f8d9ff1c-e836-4c8a-88d9-fd2d0f4a8c1d CLINVAR:102732 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c742811a-56e9-4cba-aedc-f2974d35ebac CLINVAR:1711524 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dfdf4707-87f8-421d-9541-033ea20018da CLINVAR:1711524 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49143fe8-ac12-4b6f-ac91-c45e3bc404cc CLINVAR:2203245 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d5d4c651-af5b-4881-ad3c-43f80010cb6c CLINVAR:2203245 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d60de238-94da-44d1-a345-ea8ed72bb269 CLINVAR:623475 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ee145be-c9c5-42f0-ab17-dc3b110a5fa1 CLINVAR:623475 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d5527b8-8a56-451e-bb80-92167ce2c40a CAID:CA350138800 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c19e6783-a144-4f55-a2e3-db404ccb634c CAID:CA350138800 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c843d978-0c7a-4d7c-90a5-2ac4ffb1a653 CAID:CA350138732 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d2590ae0-3b52-4eef-8889-9f04e545c065 CAID:CA350138732 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78903d47-9abd-4fbb-9239-f0af74b80cb0 CAID:CA350138731 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9337b212-e31c-4a46-bbf5-ab6cfbbc13e3 CAID:CA350138731 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a25616d8-d6fe-4f25-9228-00a2dcaa9daa CAID:CA350138990 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b15c0e4b-4992-4025-ba7e-2873cc59748d CAID:CA350138990 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 023f2597-2729-456c-9bcc-bb6baec7a53f CLINVAR:542070 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ac98a446-3f4d-46b8-8e81-11694eb4f669 CLINVAR:542070 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 600bd5e7-69f3-40c8-83cc-31939f5dd5e7 CLINVAR:827701 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be52d489-141f-46c2-8d25-a1016cda81b7 CLINVAR:827701 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12d9e915-8c85-4672-bcac-00deffef86f4 CAID:CA350139018 biolink:genetically_associated_with MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 18d64225-6fbb-4477-b5c6-cbfc8f8f0f28 CAID:CA350139018 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd0e4994-5d3d-4c45-acbd-8ff82ddcdae7 CLINVAR:636389 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a5ff389-a29e-448d-abad-1f78ede427b2 CLINVAR:636389 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bfa0520-b5d1-4469-8854-f3c4517a3c03 CLINVAR:1439020 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5459bc6b-2044-40a0-a330-8b52085843ef CLINVAR:1439020 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87fc5a29-3e25-48c8-befc-de5d4c7a1286 CLINVAR:161109 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1dacdf46-8d70-4c33-a652-4c48077058e9 CLINVAR:161109 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5868aa3-8b30-44fc-989f-4feb7a1048f1 CLINVAR:161112 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 931b2ebd-7d71-4c4a-bad7-1e4663a6df43 CLINVAR:161112 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aac1748-c975-4bca-89c0-2215cf42c145 CLINVAR:161110 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 464d5e9c-d1c9-4570-9204-75c4d082619c CLINVAR:161110 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40bb37c4-a3ca-4000-88ca-086c371c80d5 CLINVAR:432079 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10ff55a4-758c-4d81-be6d-c5556f67ee9f CLINVAR:432079 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f8bbc94-e3f5-48ee-a53b-8e82c7c4803d CLINVAR:945024 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9826e15e-2b2a-43c6-8568-4a05b29bc59d CLINVAR:945024 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 194ce297-a729-462e-bf73-7be1b3bd297d CLINVAR:644629 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5ba16052-8b8f-4645-aefb-82c1c609f1ab CLINVAR:644629 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f646f549-0836-47ca-96c6-78be6827f35b CAID:CA2573320363 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 38c7c0bf-9487-472c-90c8-aaa02cfd35ca CAID:CA2573320363 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8181668-73dd-458a-bd7b-12e8cd10ebb8 CAID:CA2573320362 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0aa9c80-29ff-41e2-ae42-428a22f96712 CAID:CA2573320362 biolink:is_sequence_variant_of HGNC:2505 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3de5f165-b885-4225-9036-ec5120ec3b72 CLINVAR:304 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a004a5b8-576b-40fe-9285-2ef2ec3e833d CLINVAR:304 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c822096-eb5a-43cd-8044-d31cdd72999b CLINVAR:100323 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a8826532-e967-4171-8116-36cd0d646dbd CLINVAR:100323 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30dc3890-ce8d-4dd6-8f38-17b43543bba5 CLINVAR:551306 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b67bae7a-9e35-4c18-a6b3-2560bcb10ed0 CLINVAR:551306 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6c1920-924a-41cb-b729-24271860b5ff CLINVAR:1322967 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af138c76-544a-4981-abfe-2f5f3d537157 CLINVAR:1322967 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd002ca1-a891-420f-ac2a-d626a4339aff CLINVAR:1322949 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c66e5c64-57c8-49bb-a82b-8a04231e4997 CLINVAR:1322949 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82562ccf-b265-43b5-a579-2dc01161aba8 CLINVAR:972744 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8a0b6686-b68a-4cab-b0dc-c3af9fd9e90d CLINVAR:972744 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 092c4983-a3b2-400c-9c32-f21a2a571b2a CLINVAR:456434 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 20e4cf52-b0d0-45d9-874a-38ddb7f2e8bb CLINVAR:456434 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edd0cda6-66f6-4ed5-bce5-2b04e0e48acd CLINVAR:1034639 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7cb5155a-fc26-4344-8882-278b276239d3 CLINVAR:1034639 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22172113-9a9d-45c7-8bfb-47699042dde6 CLINVAR:2506145 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4542f3c7-3bf2-4ab7-b2d3-6bbaf4bf4d6e CLINVAR:2506145 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6297d7-14f2-4a7c-a159-47f9b484956b CLINVAR:3235260 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbe9c8c4-817b-48e9-a518-68166de76501 CLINVAR:3235260 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2a3676b-375a-4356-97b4-6835aa527b32 CLINVAR:938008 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f6e04ba4-70bd-496b-befe-ece74d397611 CLINVAR:938008 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d87adaf2-ad50-4004-b012-896b5b9de8d6 CLINVAR:2138117 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 77809566-be9e-40e7-bba9-a7ab19dc6c4c CLINVAR:2138117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1055d56c-c2a0-45a4-984b-809cd468d991 CLINVAR:1972115 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 993a13ce-887d-48c3-bf19-339fac72856f CLINVAR:1972115 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f9e0145-4220-40a1-98dc-f6712b708932 CLINVAR:1945670 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b119e829-1342-4593-8dfe-1d818b180a7c CLINVAR:1945670 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6bdb729-5c9c-496f-bd73-7025efa08531 CLINVAR:439019 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96862501-d64e-4098-beb1-c1a4a785f0a7 CLINVAR:439019 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f342999a-e86b-4f81-8180-9545318fb0e3 CLINVAR:55718 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 89a10efe-5037-47b1-8ae4-aa5971938d50 CLINVAR:55718 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d85405e2-8ad4-4af0-a379-b18e90fb2af0 CLINVAR:55415 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 642548d6-798f-4f8b-af6e-0a7c4625be29 CLINVAR:55415 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7640468-459b-4119-8038-c55364b6e4f7 CLINVAR:491098 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e4ed420-575f-4b44-96c5-e879ec10cb9f CLINVAR:491098 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49148081-ff8b-465f-8ada-41babb6f687c CLINVAR:52568 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1dd37e86-e5ec-4257-a5b5-164e7f2dff83 CLINVAR:52568 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd1905ce-440b-4b7f-bcdc-4e17bddcedf1 CLINVAR:55573 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 757fbecb-cb90-4b4f-822d-6e3fc26591f6 CLINVAR:55573 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4464a055-918f-4482-be1f-1ada5d018ef6 CLINVAR:489785 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83d395b8-2974-40d4-ac7e-bd85c647ad89 CLINVAR:489785 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4155805-f19a-4bc8-a553-0d41df34e83a CLINVAR:52400 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df09ca5d-5fdc-49ff-a0a7-027a33663d93 CLINVAR:52400 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22323dc4-9850-41ec-90df-22b3f259d9ed CLINVAR:55505 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1635d25a-66ab-409c-99eb-4deb9d3780af CLINVAR:55505 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 293233ab-9c9a-43c5-9985-c971de9a27fa CLINVAR:55412 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34fbb58a-b61c-46cb-8cbe-410e1b36655e CLINVAR:55412 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 451f6134-34ce-4a28-9b01-0c62bf8372a8 CLINVAR:489784 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e99b4c3-d19e-443d-98d5-5e20a7099755 CLINVAR:489784 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e6d8530-9f7a-4e89-93eb-0b4ecff87823 CLINVAR:55552 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a418b0c2-10db-4a36-bb04-05acbbbde542 CLINVAR:55552 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e00ef110-7292-4d59-b954-f72e289dba73 CLINVAR:91649 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 48a580eb-c9b5-4314-a95b-9b3ab4467b2e CLINVAR:91649 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4989e945-f25e-45ab-b7a8-ce183b4d4a87 CLINVAR:232915 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 487a74c9-e6bc-4f2a-84a1-b7a935964990 CLINVAR:232915 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a97c201-43a4-48bc-8f56-125b5857d25b CLINVAR:491071 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 51a8cb5a-3240-4055-bd98-a865507a40f7 CLINVAR:491071 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c79834f-9c4b-4a6c-a67c-cbba7f89973a CLINVAR:418671 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1890f75a-d488-4010-b3ae-85724cd5fa09 CLINVAR:418671 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27eb7636-9c90-462a-a42b-b7541125f8b0 CLINVAR:627968 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 75dbf21b-2910-499b-a801-e5c2abb7c22a CLINVAR:627968 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a37269e5-fad9-4c03-ba72-cf8ca71a61f3 CLINVAR:245973 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df939ce1-f0b8-443a-bf2d-133513dbccec CLINVAR:245973 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46cf91b4-d5ad-437d-832d-1b77c6a6a75e CLINVAR:409564 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8c7e44c6-ef0c-4003-93a4-700f889c187d CLINVAR:409564 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd1660e5-3ce4-4826-a4ce-cfd8629fa9c7 CLINVAR:185084 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5caa22c8-5771-4d0e-a606-5f12afff6aa0 CLINVAR:185084 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3639d9d-536d-41a3-8fc4-f368ca49a03c CLINVAR:419217 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c393ef5-7d95-4dc9-af95-7bf2d10622c5 CLINVAR:419217 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f05045f-9ecc-4781-803e-bd1fb04ddeed CLINVAR:96859 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen da0d823c-1825-4e1a-962a-715842e5788c CLINVAR:96859 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d292e3-78c7-4fde-921c-0e31946d3a8e CLINVAR:232537 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen abb81102-c1ef-47db-bf5c-0c472e5be572 CLINVAR:232537 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 729865a9-0f9a-45d1-8f56-cc6bf4a98de0 CLINVAR:52780 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 28e08cd7-5f0a-4fdc-a11a-6321dfd136b5 CLINVAR:52780 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd6d6775-5e20-430f-8cab-24d83bcd743f CLINVAR:96944 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 54fcca6f-2b82-45d1-8d14-032a6c713883 CLINVAR:96944 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6de47296-8120-48cf-923b-aa82b7e23f18 CLINVAR:1685834 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen de88dbda-e392-457a-84b0-3d486dac4bf5 CLINVAR:1685834 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48c924fd-8c95-4645-b1f7-adc3d74eac18 CLINVAR:142624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70ca9f7c-1150-4ef9-98e3-e31d557321d1 CLINVAR:142624 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ad2c04a-e36f-42e3-b2a8-bf8ceb8fcc10 CLINVAR:843641 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen afc45e58-f134-455a-a36b-8854b8a31bb6 CLINVAR:843641 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feac2239-d0c1-431f-a5b9-34dd9e3534dd CLINVAR:188060 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8d08288e-4593-4958-b1b8-d9af6eef331f CLINVAR:188060 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 338a5b79-8f0f-43bc-9438-c36223c61c78 CLINVAR:376631 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2681f1d-8d4c-450c-96e2-8346973eb3b4 CLINVAR:376631 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a22bb43-1ffb-4463-8411-b97d9aab0c85 CLINVAR:458520 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 26900d89-b6bc-46e7-81b5-c7d5eda403b9 CLINVAR:458520 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db13cd3a-c6ce-4b17-85a1-766022f2cd94 CLINVAR:2432729 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d512b1ce-a4d3-4027-9fd2-179de927ab88 CLINVAR:2432729 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ab44aca-4327-4004-9c28-666ac397bfe5 CLINVAR:856299 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b128eec-ccda-4b85-8954-1eaf29a6307f CLINVAR:856299 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2781428e-709e-4d88-81b5-046ed692c1c4 CLINVAR:1759844 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5926c904-311c-4ae5-8136-d8dd7224d5f6 CLINVAR:1759844 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f9d4af2-f313-42be-bf5e-14a656b5a46b CLINVAR:428888 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70bcc265-c7a3-4ecc-a4e9-dc597421ac07 CLINVAR:428888 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6350da54-2eb0-4571-9681-418cab614b37 CLINVAR:3147976 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a955c756-0493-4882-a192-d0f16550533b CLINVAR:3147976 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 838b6fd5-61a5-41ee-8fa2-43f9cdcc38dd CLINVAR:492752 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07a8e38d-d001-440e-b7b9-3163688e0645 CLINVAR:492752 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b32629b-da6c-4e64-bbbe-e8bf4088e603 CLINVAR:481015 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c64e24cf-2b5e-4888-9bd1-43e51bca229e CLINVAR:481015 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47159ff1-1c55-4f03-bac9-62bcc7a87d9a CLINVAR:376680 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61f34264-f893-4e0a-a475-f693fc8c2713 CLINVAR:376680 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25aaab07-ce7f-4780-a894-fef726803c43 CLINVAR:216467 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fb6f21ea-6998-4b2f-9e17-7f79c498ffd1 CLINVAR:216467 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1324ca1-6bc2-43dd-a895-3fe7bf13fa62 CLINVAR:2757236 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 521d4c5e-c93d-48c5-9294-d7e946d1a262 CLINVAR:2757236 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 113c3d48-0c79-41f3-a3e8-df10affae2f1 CLINVAR:528248 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 15f8e52b-7ea2-4f5b-bb06-0cd552d13d5d CLINVAR:528248 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0623ff5c-3eba-46e1-ac21-b1c308b84df1 CLINVAR:246118 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 85749f3c-a68e-45f9-8469-b397fe38cd8c CLINVAR:246118 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d8016f9-4863-44e9-8801-3b5aace6d07a CLINVAR:2697350 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a329cb7a-0503-4836-914f-cf4b028f497e CLINVAR:2697350 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bbb80bb-e22e-4239-a5eb-7df2a948596d CAID:CA2497028965 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cda23111-f825-483f-abe8-3937a989be07 CAID:CA2497028965 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a7d6062-a32d-4eba-b1db-a86579c78663 CLINVAR:376630 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb708ce6-7562-49fb-af92-2dd1734cf8c1 CLINVAR:376630 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e04f03f-3c4d-4aff-aad2-7e5949e4f86e CLINVAR:10167 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3421c11e-8b57-418d-8a98-47208fe58936 CLINVAR:10167 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e6aa3a5-6f3a-4c6c-8354-bf4f76bae795 CLINVAR:3338831 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10aabc4a-0ee7-4519-a51d-9cc55c9c8247 CLINVAR:3338831 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6433a4-05c5-4980-9bfc-84463fc5579a CAID:CA414919991 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 02690bd6-09ae-4800-a9d9-feeef925bb0e CAID:CA414919991 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aa8ee93-1142-4688-8c68-c01181753c6a CLINVAR:3380944 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9341e01-a125-4c43-bc88-7a7ffb67c2ba CLINVAR:3380944 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f9ac8c3-dd10-46c0-9d70-c4a248725dfb CLINVAR:1458768 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 326a2be0-e3c9-4644-8abe-1be6bc132370 CLINVAR:1458768 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 919f3d8a-472b-44b6-b48c-f0ecee750a78 CAID:CA355945475 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5ed43993-ed1c-4fa0-bcc5-337004747df8 CAID:CA355945475 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e89d32e0-ffda-4d5d-8541-6f0a7b902ace CLINVAR:2432733 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9205b2e6-6e37-4df7-afa4-a9d2f76f9301 CLINVAR:2432733 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62ca6c96-6d85-4e25-8dd7-2458211f9421 CLINVAR:281005 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5dbee942-326e-43a8-892f-fbfb7bfd5cab CLINVAR:281005 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b6cdc22-d349-4e40-8e47-194fa614e151 CLINVAR:1068474 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9e757f5-9857-4cd7-8475-3fc1a79d7129 CLINVAR:1068474 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42954086-7b77-4fc1-b5ff-da89ae7cc89f CLINVAR:1204494 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f2482c3-5b64-4549-a784-4f219a09ca91 CLINVAR:1204494 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69d9dd6d-fe07-4458-92e7-7d934b760c0b CAID:CA355962280 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 475040e7-e49e-4be9-a8d0-5c49bce5369e CAID:CA355962280 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8009aac-6480-4fe3-99ee-7a1d3ae0546e CAID:CA355962278 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 50103493-e6a6-4d85-9060-7f2a58931cf4 CAID:CA355962278 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b9923e2-c417-47eb-9256-b3060eb6c1be CLINVAR:198406 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d78b537-5dc9-493b-b0e4-187da83a046a CLINVAR:198406 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e392e40-916f-4522-83ea-be8a90455a2e CLINVAR:198696 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96c46a6a-f45b-479d-ab2d-8045068b385c CLINVAR:198696 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6c25d8-c6e1-4705-809f-1f7ab4e422d3 CLINVAR:565486 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 236f5f79-213e-40a7-9577-b989039e647e CLINVAR:565486 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dcdbac6-9d59-4f80-9077-34863d34a9b7 CLINVAR:580378 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 88e746f9-21c4-498a-b057-3648a69b772b CLINVAR:580378 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe63e969-714c-4825-a4f6-b101acc3da33 CLINVAR:632970 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 39e0a293-74f9-4231-b402-c1f3ff275486 CLINVAR:632970 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d1b626-b661-44c8-80cc-eb3876aed291 CLINVAR:633393 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6dc3b555-be97-40d6-a478-d4bf75ff0b1a CLINVAR:633393 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aab3f33a-afc2-4985-8037-4984b72b0eb6 CLINVAR:928882 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 27773185-6b25-4887-993e-aaf1a022e92e CLINVAR:928882 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9948d43f-2765-44f1-b165-5b1069c516b2 CLINVAR:379208 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen db516910-20b3-4324-af4a-d912929d5772 CLINVAR:379208 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 439f05c7-576b-4f95-b7e5-df3d99934d82 CLINVAR:4475856 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0dd9eac2-0610-48d2-9579-8c69541b78c9 CLINVAR:4475856 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d0014ed-99d1-4ce1-a28f-d25e937beb59 CAID:CA415256306 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9a1f9364-256f-43f3-91ec-c91ffcb9b732 CAID:CA415256306 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c1c8a23-3e75-40de-bb7e-3e1b514d8693 CLINVAR:281932 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5db6394a-b195-4a62-a823-a9c844931740 CLINVAR:281932 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4ecb0fe-a67a-4a7e-8243-987b7020fc07 CLINVAR:14221 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1d0668a-8c84-4620-a5b4-ab67e35bef24 CLINVAR:14221 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ffce7f1-1c40-4fe4-99db-a496e8905a21 CLINVAR:660541 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b70be74a-5fdc-4910-b34f-e9a065f000f5 CLINVAR:660541 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cf64af6-fd19-4761-a18a-fce5893b8cfe CAID:CA405671576 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7ce79d46-047c-4ad7-8084-201285f817c9 CAID:CA405671576 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c950eae-55a1-4bae-8f11-6eaac10b3e3d CLINVAR:487451 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b9cba23-ae35-4477-b243-e712e7969937 CLINVAR:487451 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a1a10ca-2502-4dee-b6e9-d91afa9d63e0 CLINVAR:1072425 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4fca28f-9484-42fd-8881-02bd8c9a9a0e CLINVAR:1072425 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 181d515d-7844-4bd0-b7f1-a390fe565fc2 CLINVAR:982438 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 032d33f1-d423-4c49-80ac-3686537f9bb0 CLINVAR:982438 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f24aa5cc-5e48-4ba7-b06a-2d0f1a01ec6f CLINVAR:575986 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f6c1c989-aeae-40a6-94c5-63a1e4252ac7 CLINVAR:575986 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d4b264-f463-4e7f-afc4-60f9868a4d58 CLINVAR:133206 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8e0c1c0a-c814-47fb-92a2-8bd4b156c435 CLINVAR:133206 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38812653-1e1b-4845-b1eb-71f4d19acfa6 CLINVAR:13534 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93a1aa8c-adde-4d42-a57b-c8e1312f596c CLINVAR:13534 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdf988db-3580-4c53-91bc-15e37b346185 CAID:CA402997251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 17062746-6fcb-4ce0-8035-f826a1e7ddb3 CAID:CA402997251 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eee1346c-5510-4440-beeb-9da9958fd5ad CLINVAR:801415 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 281b06d6-d9b7-4533-b502-aa3e18e307bb CLINVAR:801415 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d4e04d0-3f2b-4f1a-a214-827a41d0e6b1 CAID:CA402995747 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 40345916-d789-4a8c-9194-9395ac494f83 CAID:CA402995747 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e038f592-8d1e-4b5d-bc9e-731c22a046c3 CAID:CA631044777 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50c4e83e-b185-4b39-b2fc-4771ffefe159 CAID:CA631044777 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d9f0924-81db-4690-a39b-10197e7e305e CAID:CA402995509 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 512ce161-0c1d-4810-9a1d-fd8bfa7cae68 CAID:CA402995509 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b53362f-454b-476b-9907-be5de3080dab CLINVAR:2503890 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 11a78432-27d6-4030-b5a8-5c9e32d3be45 CLINVAR:2503890 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55f4fd3b-02ee-4970-ba6e-978101efca14 CLINVAR:1098275 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 766aec71-a324-4603-ad21-86902611ba7d CLINVAR:1098275 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aec454b-aa35-4328-827e-f3ac36ed6a77 CLINVAR:1098274 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c02d2f75-b71d-4fb1-94a7-378977092fdb CLINVAR:1098274 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e010de09-67f4-4db0-8476-d39e6241a211 CAID:CA354447298 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32e642df-3a3c-4674-88ee-b09db46a0733 CAID:CA354447298 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75264665-fb80-4818-94c0-48f125cff01d CAID:CA397313655 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8eb4493-315e-4f8e-bc82-7bf21f6355c2 CAID:CA397313655 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bf96cfd-e85b-43ab-bada-b0440d7f4b1c CAID:CA2573320224 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7bddb397-e312-42d0-99f6-2c030e4dca96 CAID:CA2573320224 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8782118e-080d-453e-9c8b-bbd4f03b893d CAID:CA397315380 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 649d425c-56b5-462f-b634-1e81cc7f818d CAID:CA397315380 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12683471-98ae-4cee-ae7f-619b1395e35d CLINVAR:3251816 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d6f61b5a-be91-4986-8d3d-0f1a8bd43b87 CLINVAR:3251816 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d3d86f2-e545-42b0-a79c-938f7693cc9b CLINVAR:3582323 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d907c0ba-6d93-4d08-8613-89ea450e5846 CLINVAR:3582323 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e64781c-ee8c-4bd3-b635-84a44cae7300 CAID:CA397319681 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b6793d5c-d12d-41fe-8627-c49dfdb63531 CAID:CA397319681 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46689e86-ecdb-435e-a752-0a18d29a03c5 CAID:CA658820740 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5f91194a-fcda-4d93-a69b-b3a603c86a55 CAID:CA658820740 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63c695b6-53e7-427b-8cb9-65c8a866092c CAID:CA397321949 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e12f5542-144a-47c0-ae1c-560b72330850 CAID:CA397321949 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afc116f7-e994-4daa-86b9-d5c4bc792236 CLINVAR:2736608 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b4edeb74-2e90-4a8e-9cb8-95151bf6db14 CLINVAR:2736608 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aa6a937-453e-4fa9-8d26-0f96acf82273 CLINVAR:972760 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd160a31-543b-4391-acf7-5353a852673c CLINVAR:972760 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 192c34b1-b6ab-4852-b83c-7bf9667cd328 CLINVAR:662598 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 81881fd9-55a7-4e00-957e-6722d551b705 CLINVAR:662598 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 713442f3-54b7-4352-8e65-7b7cbe1b62ab CLINVAR:370998 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bb2e7e07-bb8a-4fef-845b-84413bf91d45 CLINVAR:370998 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5876f876-45b9-4e8a-8c96-9e707e27d637 CAID:CA2602634 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97cc2b7d-1064-4f4b-9c83-fdf0136be943 CAID:CA2602634 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff40a65-3b49-4068-ad14-90ef35f02a8e CLINVAR:13532 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3f4804d4-bc28-400d-a6fe-adc8d572f727 CLINVAR:13532 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b07f941-0e75-440b-a7e4-7ffa78fb3711 CLINVAR:522924 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 925ad9b6-f087-46fe-9881-d4e71d32b2d4 CLINVAR:522924 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a9cbdb-f374-4967-9b50-c5f071eb3741 CLINVAR:523396 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15e84aaa-cb5f-4772-871f-5174aca7ab3d CLINVAR:523396 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d806c7-909c-40ee-8691-5d6e6835fec2 CLINVAR:624624 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8e4c8db9-09e0-4a88-9a5d-5f0150762ecf CLINVAR:624624 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b752c58-1aed-4e38-ba55-2cd510f63640 CLINVAR:691254 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 447f7ab3-776a-4705-ad53-9afbd1233654 CLINVAR:691254 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f622ec9d-5d17-4c5e-a112-acc2349d8c1d CLINVAR:373333 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen cf011ca8-3673-47ef-9da2-d2a76dc8156a CLINVAR:373333 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c14ecb4-410b-4d9a-9ebc-445a3465846c CLINVAR:489373 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3b0c1572-c686-4f23-86dc-c1a4d2947c39 CLINVAR:489373 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cce96d0e-9b0e-4675-ad82-d6ca3d79ea98 CLINVAR:1049951 biolink:genetically_associated_with MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a266eb2a-ce0e-46dc-a5b5-ea6086cae9bc CLINVAR:1049951 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f89a3386-f606-4347-b97e-474ff415b7b1 CLINVAR:536549 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 055f809c-3029-4ed4-926a-ce0e17f686be CLINVAR:536549 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d77ff06-9e26-4901-8de8-d47a212ecb9b CLINVAR:1043063 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b805fdd-c73e-45ae-9676-024ad610a404 CLINVAR:1043063 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cfe720c-2274-4b4d-8fb7-2c742d720cdb CLINVAR:495806 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 95a61a2d-80c2-470e-a9a4-c89cadd70041 CLINVAR:495806 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbb14a80-61e5-4d56-b4f1-5f904fe2f766 CLINVAR:580948 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a135eb4-1e75-4c28-8230-30165bf0cff8 CLINVAR:580948 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc21d57-e4b8-405f-bbdc-96ee0444d1b8 CLINVAR:694617 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0b2277ff-e03b-42af-9e2f-8302d52081f6 CLINVAR:694617 biolink:is_sequence_variant_of HGNC:10586 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7083bbb9-3fb7-4e2f-bbc3-dd8de0529a75 CLINVAR:1527893 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c1fbd45e-e8dd-4724-bb12-4e91841bfa87 CLINVAR:1527893 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48f8cb95-8f4b-40f6-baad-58248fbc5573 CLINVAR:810877 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c9878f5f-fe1d-4cfd-aa80-6850c2c8ce41 CLINVAR:810877 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c69384f-2b74-493f-a07d-b841801768ea CLINVAR:942974 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 05cec848-a0f5-46ef-b93f-c4a0e4df8233 CLINVAR:942974 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f79dd69-d5b2-404b-a2e3-1bdd54fefcac CLINVAR:1036903 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b08db137-82b1-46fc-a06a-cd66293d666c CLINVAR:1036903 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a0df158-47aa-4bfd-a454-dc21d2cd70ec CLINVAR:99375 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dddd50cd-2921-42aa-8fd6-b5dbab67db54 CLINVAR:99375 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 081bef20-c220-483b-8e25-e3205fcbe85b CAID:CA341276980 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0bbbb3e3-f6e7-418b-8021-98d3b7a2aac5 CAID:CA341276980 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e9832bb-ce62-4b05-b886-bca82527f434 CLINVAR:99450 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 01fafd5c-b4a9-483b-a151-83d47fca2d34 CLINVAR:99450 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66673b35-01be-48e4-8d58-100275c9ad8d CLINVAR:236109 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4d060492-ec83-441e-9468-f8f1d384c069 CLINVAR:236109 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d038c855-d3c8-42da-9b96-aedab2f6308a CLINVAR:228954 biolink:associated_with_increased_likelihood_of MONDO:0010860 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a4258f98-546e-4c05-84a4-18b1947e5d97 CLINVAR:228954 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f88152cd-b928-4c73-9d96-bfda8306dd2c CLINVAR:99087 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ad1928e3-b46d-4bf4-9447-9a17343a10e8 CLINVAR:99087 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e06377b4-c031-48fb-9d6e-6614780a9dc9 CLINVAR:7898 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2b3bca54-f1e7-471e-8f36-7b2c3829c18d CLINVAR:7898 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40d20e0e-bbc4-41c7-941c-f62d3dd6470d CAID:CA031062 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4f298ac-42e8-491a-9857-7ecc376b153b CAID:CA031062 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 758615c8-e72c-470e-9a0c-dddd5ef941c8 CLINVAR:236113 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e61fc66-c613-4eb5-8a4b-d445cb8813a5 CLINVAR:236113 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4232b7a-73de-4b3f-bc1e-0e49fcc5065b CLINVAR:836905 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89eb27a2-1b1f-439a-8493-209652d138d1 CLINVAR:836905 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af18d441-7ee9-4602-ab98-6e5d0779ed9a CLINVAR:99084 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ddcccf9f-1101-41e8-86e8-857363315678 CLINVAR:99084 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c09fc140-eabb-4ea2-978c-96e9810e6735 CLINVAR:871507 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36ead3fb-448e-4e3c-87cc-06014fdd3da0 CLINVAR:871507 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b72d8961-89c2-4949-ac8b-eb7145ab30d7 CLINVAR:99224 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a783eff6-0c7d-45b7-88be-b2cf67124e12 CLINVAR:99224 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e390516-abf5-4139-ba54-fbfb8cb9d775 CLINVAR:7904 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7454cba8-7374-4b3a-a95d-692b85f4edb5 CLINVAR:7904 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 929454ed-20aa-4ac8-b7e7-5494b29da649 CLINVAR:438100 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8457f05-dfd0-4a17-845c-cc6e1d1812c0 CLINVAR:438100 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b1eb98-daee-46f1-984c-2f899fe21a23 CLINVAR:7879 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 231b2999-31bd-45bd-9a24-9e20ed968873 CLINVAR:7879 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a49fd5c-e92d-42e0-828b-a3b7ebc67d40 CLINVAR:143076 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03ffa748-73ef-4517-b078-53a5aed92b32 CLINVAR:143076 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c30c9ef1-cb57-449b-ac9d-360fe9eee2cd CLINVAR:99303 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 402741db-9729-4448-8e8c-6dc9ef87616c CLINVAR:99303 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b6317ea-91b8-4886-9bac-efb14ccf5991 CLINVAR:2585325 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1691c8c3-0106-4e22-85d3-b910faaa21b2 CLINVAR:2585325 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0754b922-5717-49e2-bbac-3eb42c65a67f CLINVAR:1454986 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ba95ed6-d01f-4fca-8d3e-52a03cf2cef3 CLINVAR:1454986 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e168392-8a05-479b-9806-f46dc0140e0d CLINVAR:236516 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2ef4061a-5edb-478d-b650-786bb2b84344 CLINVAR:236516 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a1a5024-28b1-410d-81cd-7506e9f7bc4e CLINVAR:1440605 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d1009c60-8427-47aa-ac0e-c5c3fc922dec CLINVAR:1440605 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4215f11c-9c13-4b73-a31a-b32aa42944b0 CLINVAR:812202 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41ac578a-7284-4731-82ec-b4b3acb7e2d8 CLINVAR:812202 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87556b90-5b8f-457c-98c8-58652bb9397c CLINVAR:236122 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7159fe5-842b-439f-9ada-dfb987c0f6d9 CLINVAR:236122 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42d7e8d6-2fed-4694-9207-f80bcb3c930f CLINVAR:866242 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 844d7e5a-28d1-4a88-a410-b34fa4731b2c CLINVAR:866242 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5edeabe3-3937-44c3-8753-2597bc70a739 CAID:CA341283237 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 44b1fbeb-83ab-4820-9603-a60ea16b2893 CAID:CA341283237 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf9dc10-e805-4c8e-9018-6a69f3278222 CLINVAR:1196428 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 241771ac-a87b-4786-a591-8a5028938c4c CLINVAR:1196428 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c29aa5f-ff44-4424-af34-730d3743b276 CLINVAR:99359 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 83e7c1c9-8798-46e8-9fb2-679d5fd09c47 CLINVAR:99359 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b58213f4-f588-470b-abbf-7eb0c655f17b CAID:CA2586966736 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d9b4b9ed-b01b-460d-83e1-60cbc2f83ab7 CAID:CA2586966736 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4eb2b67-e15c-4f50-ba15-ad9bf92ce905 CLINVAR:822002 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 275c07d3-92be-43fb-9f6f-6a9b29db31cd CLINVAR:822002 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44c17a8b-62ad-4c6f-904d-46ba2b53299a CLINVAR:99135 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 25889f53-a6c2-4d43-b83a-470b911994af CLINVAR:99135 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f29a8eab-0dab-4dc1-ae3a-4622139f162c CLINVAR:99455 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3f01918-ad98-41b9-b684-e46d5024aa09 CLINVAR:99455 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23d2ee5f-fa76-4eb8-a294-ede379772725 CAID:CA8365610 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4922f705-4361-42ef-b487-55a6261c1ce4 CAID:CA8365610 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b86dae4-cfe4-42f9-bf12-607ab211a229 CLINVAR:1372740 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97d9e075-42f0-4a4a-8e39-d0fa9bdf4df0 CLINVAR:1372740 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 851e389b-67cc-45b7-bc93-cde28c9ee568 CAID:CA3249353685 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d10eb45-9182-47b5-a2c0-da8c5e5185f2 CAID:CA3249353685 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8663b7e0-e955-411d-b888-7424c00e729c CLINVAR:2733942 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d8e59567-6377-46b5-9d8a-61f7fa00d723 CLINVAR:2733942 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a57d4b1-75c3-413a-a1ff-e04c57dd6766 CLINVAR:99458 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c9788f44-61f4-483f-8e2a-8462565f1ed4 CLINVAR:99458 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c19e69b6-dad2-4b47-a36e-09e4db526610 CAID:CA397955377 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f94d20d-3117-4627-ab74-ec664086bf01 CAID:CA397955377 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7dd2190-2599-4a02-9f59-15cbe4f2e45c CAID:CA397946280 biolink:genetically_associated_with MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9c6fa268-b9a4-4f08-b1f9-d4f4fb31d51c CAID:CA397946280 biolink:is_sequence_variant_of HGNC:4689 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd44f31f-ac05-4443-945b-359f76954ba1 CLINVAR:298222 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4eda20dc-68ea-4532-a93d-4b07751d7f2c CLINVAR:298222 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7acbcce-a9fd-4cda-be10-13e60773a49b CLINVAR:99249 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e17e277f-075f-4471-820e-4d9d2a471d0c CLINVAR:99249 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8163435-d167-4f0c-aee1-8bc4637eeb2d CLINVAR:498001 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c855af90-1e5c-4318-a9dd-62691f54f93f CLINVAR:498001 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f4dda87-4e04-42f4-9af7-4f74cb0b746e CLINVAR:99338 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 14266c89-9172-4e2d-8082-3094ee3263dc CLINVAR:99338 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ab17e6f-1702-4396-a43d-30c22ea7e89a CLINVAR:2678438 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fb77209a-b994-45a9-8944-055f4e96b3d4 CLINVAR:2678438 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a4fbc83-c48f-4927-88e5-fe77126ca1c1 CLINVAR:3381789 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d5643d70-f81c-4f7c-a804-acc0f6c24040 CLINVAR:3381789 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70933b75-5b19-4a93-8a2e-b7a487a72889 CLINVAR:973960 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fab343c1-8f39-4b66-87ef-fe8e63e232de CLINVAR:973960 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c60e64d8-04ff-4c71-b85f-a81f371bc21b CAID:CA409110477 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f6a714bf-59dd-477a-8af0-3dad7a65a831 CAID:CA409110477 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95a44bc5-4462-40c6-80b3-a406dc830524 CLINVAR:1338955 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33b83ea1-2db5-44ef-a057-11ad64ad0490 CLINVAR:1338955 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d356b5ce-cb66-4549-8d91-35bcedf0c21e CLINVAR:98861 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0f303fd5-b65f-479a-8b1b-b2b8a0bf19fe CLINVAR:98861 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29d4ac5-4093-41f0-8545-f65319eaeb7f CLINVAR:99104 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e2cd188c-fbda-4662-b958-5fa176f59d25 CLINVAR:99104 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 765dc774-ccf5-4e5c-a367-4d07520f3075 CLINVAR:812208 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 620f345f-e7a4-4df0-85c4-b491e39c80ec CLINVAR:812208 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8868aab0-c7fc-43a7-be65-5616dc9cdd67 CAID:CA341280330 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0e36fa32-b6b0-4360-ba16-39e57e274a43 CAID:CA341280330 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11218c5-d253-4ec2-9f5f-51d37ad86fac CAID:CA645372187 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d75b67b2-1a5c-407a-914c-e5d3f5f37aa3 CAID:CA645372187 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bae9ed8-5f6a-4abe-b5ec-68fb9cc63208 CAID:CA341275107 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9d9227b3-31b3-4025-be15-9ea2f273c4dd CAID:CA341275107 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0882a37e-6c26-4ff7-918b-80c3cc855c11 CLINVAR:7900 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b467d11a-d6ee-4c45-a264-0616aad9833d CLINVAR:7900 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c412efe3-0ea3-4736-a1fc-bb95d6894e72 CLINVAR:99217 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 128ad605-181f-45f0-9eb3-f2c7345517a3 CLINVAR:99217 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e06de9e0-9726-4aaa-868a-ad8d755dfde8 CLINVAR:7905 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 740b1cb6-9be1-41c2-96cf-a2c4f89c9f2f CLINVAR:7905 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92384e1d-118d-4c2f-91f1-64d681255ca8 CLINVAR:99073 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f5d8f39a-11d7-4c90-8758-471540b771ea CLINVAR:99073 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 302b1e2d-aac2-4bed-9b82-e98b512c9f9b CLINVAR:99337 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f0a5325b-f8e2-40de-b6e5-bfe8005de5dc CLINVAR:99337 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51449402-a6e2-4803-82a8-45f4d483f18a CLINVAR:372290 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a4df1ab-43c2-44b9-bf0f-b388003f5422 CLINVAR:372290 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 134a290f-2ecd-4404-9907-1b460ecd1d3a CLINVAR:99113 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c3a1e1f5-fe10-417b-bfdb-8b8a5201044d CLINVAR:99113 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0347a5e1-1dce-4b61-acdf-376ba1fcc0a7 CLINVAR:2733921 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 88494f5f-b961-486b-bd32-ffc550a5f7f1 CLINVAR:2733921 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c543ed63-efeb-4194-a730-7ed8fb723828 CLINVAR:280328 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 854a7d2a-4a66-47c7-a101-6a0cf5de0832 CLINVAR:280328 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3db0466-a738-4070-b71b-bac867d5ff6c CLINVAR:99305 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 27fea6b7-733d-47ff-aea9-7d603c0c2697 CLINVAR:99305 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bf078a3-bf19-4029-950a-bbc8880666a2 CLINVAR:156596 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f6ddcf4-4a3a-4bba-86b3-f461368b966d CLINVAR:156596 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f6a4c56-7ff9-471f-bdd7-156f361c73eb CLINVAR:2419189 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f459f802-36a6-46a9-9fbe-6d6fe4db6416 CLINVAR:2419189 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3870a0f0-a10f-43c8-8098-b12154222dae CLINVAR:1879751 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8729aadd-7604-478b-a77c-6846d5690de4 CLINVAR:1879751 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc51bb21-cd4c-421c-8499-c98b93e83edc CLINVAR:2925658 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 92240c5d-c3e2-4fe2-a096-1cd4cacc5fce CLINVAR:2925658 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bd17f2a-cec8-43b4-863b-60f8a69f0b4f CLINVAR:1700183 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c0ccb9d8-c482-493f-9dd2-ec8869793205 CLINVAR:1700183 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60a4b552-170d-4820-843b-4f79f4772eb7 CLINVAR:99300 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 337d7518-e2cb-4f07-aecd-9314f651ef8d CLINVAR:99300 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9bf2e2d-393c-481b-bbff-05b0eb1d94fe CLINVAR:2733935 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4fbdf25e-d18f-4dd2-b204-630fa0128a8c CLINVAR:2733935 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e256cf0e-2c87-470a-af57-a66bf2477650 CAID:CA341290648 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 622bc8c5-72da-4ccc-a463-75f07a652169 CAID:CA341290648 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fc0e5b3-7ab5-4163-97c2-354c12c418a9 CLINVAR:99283 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f0e4a38-4a5f-4c6f-85de-6a6a58c0eade CLINVAR:99283 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c188cfe-32ff-486d-bd25-8409bff5e47f CLINVAR:99110 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b38991d5-a03d-4131-92cf-13397c16fc46 CLINVAR:99110 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ac4b952-829a-4bcb-9bfe-a7c2dcb06da2 CAID:CA645372205 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e444f22b-3dc6-47ab-be06-5dac30f1ecb0 CAID:CA645372205 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 681147dd-3dd3-405a-bb89-f75fb973d367 CLINVAR:1460063 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6fab1b89-93d3-4ac6-878a-3004d4cfc4ec CLINVAR:1460063 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d0670ba-70d0-4f34-afa3-dc1545b01d09 CLINVAR:99460 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99097833-7109-4c58-9bd2-afa024259a62 CLINVAR:99460 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ec43c2f-e0f0-4f0d-8e71-5b9f965fbbc6 CLINVAR:618103 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3f7152bf-32b8-430a-bc86-3c0b96e0b278 CLINVAR:618103 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaf08169-c4b9-4915-a5d7-941c7d319469 CLINVAR:1403996 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf265df2-01e0-483c-b70d-5c1fa36ed9d1 CLINVAR:1403996 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75988867-89f3-4ed3-9678-7185dd9535b0 CLINVAR:2534434 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5bc59ac7-71d7-40c0-917c-b1f54811e73f CLINVAR:2534434 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 344557e9-9484-4f41-bd06-b152330f4519 CLINVAR:132808 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a702ce2-c6cc-4cd8-a690-9e24fa376422 CLINVAR:132808 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da97db73-2378-48cb-bc08-89374dd85ed0 CLINVAR:582515 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dcb6d44e-ff54-4caa-9642-82bfe1d888c6 CLINVAR:582515 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c88d9b6-bb9f-4598-bcd7-2cccff86c081 CAID:CA338303812 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen af8dbf6a-23f9-49f1-bd33-e42a9d551aa0 CAID:CA338303812 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6282b84f-1ca9-4b09-9df4-6718205fd9be CLINVAR:132807 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 61cf353d-01c1-45fb-b1ce-535b4b68dd56 CLINVAR:132807 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95bfee92-f865-425e-a698-89e553800f3a CAID:CA338300169 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 950cccd5-5fe8-4a88-8a26-5837195bccde CAID:CA338300169 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e01b210-7fc4-493d-a5b3-b1937b005ba0 CLINVAR:1457684 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f11c173d-85be-4f5f-b903-d6e969544a0e CLINVAR:1457684 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 423dbdb8-6781-4d93-9156-5d4db3203bbc CLINVAR:1406866 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4a0920c1-c488-4d7a-afaa-f04920e45eb8 CLINVAR:1406866 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9721baa-16da-441e-8e58-ecb010d30d6a CLINVAR:132806 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fbfbcdd4-4cb8-4242-ab70-18fa12728bf9 CLINVAR:132806 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6592c4d0-d10f-4f50-8732-91cf4e5fcf22 CLINVAR:578525 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6936882d-a98a-409b-8529-1e65526b3470 CLINVAR:578525 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a80177e5-2e29-4257-a44b-9cb40b4b7177 CLINVAR:871047 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2958c91b-3f75-40d4-8562-d8deb1ec9981 CLINVAR:871047 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7d62166-5b47-49aa-a241-c1b937d615ea CLINVAR:1051935 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f1dcc6c6-a07c-4c4e-a06e-1776853945ea CLINVAR:1051935 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98bb2840-796a-49f5-b959-3a792c03adb2 CLINVAR:88675 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 743f80ae-4a6a-4d4b-9609-2c15e5cc58de CLINVAR:88675 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c9ec290-fbe2-4e4e-ab1e-4fd30d83c628 CLINVAR:422410 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b609973f-ea95-4248-be25-19895d2645a9 CLINVAR:422410 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b632cf5-2ec8-4551-9ba2-2d96bd707c30 CLINVAR:2733822 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5c85322-9b78-4d70-adea-bb9e4e9c4e29 CLINVAR:2733822 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f8a1da5-035e-4666-b19b-c15ce721164a CLINVAR:2703020 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 777c8de7-9f10-464d-8296-d8db73975c87 CLINVAR:2703020 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 511a29f7-3182-4acc-88be-9c662017c7da CLINVAR:2106910 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c27556d1-346d-4c6b-82b2-c7f036e8b6be CLINVAR:2106910 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b15d518c-a6d2-4a31-ab29-419756068903 CLINVAR:1409092 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dd87b816-4656-4486-957e-6bd226d8c343 CLINVAR:1409092 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3418270-e891-483c-bcea-4517ce9366e2 CLINVAR:806050 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f8d4e7c-1dba-49bc-8a51-1bf8ac74e05a CLINVAR:806050 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c6b99ab-40c1-4bda-baa0-017c5e7a43e1 CLINVAR:1331658 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64ae1d4b-5180-45d3-a7ea-e80d1f98e359 CLINVAR:1331658 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd1d8c98-5989-4369-908b-54eb8adb6686 CLINVAR:636715 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecdbdd15-322a-430e-98e6-35b21809cd4a CLINVAR:636715 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e29f84-8442-4fc2-8669-5d31b0bd3c95 CLINVAR:1510460 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a781845-7039-4263-bcc8-a86a3bd27f86 CLINVAR:1510460 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8afa796f-0fc2-4ac0-8be7-0e477f234f31 CLINVAR:935418 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen de84f3a3-4e8d-440b-97ed-41c57be4227d CLINVAR:935418 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea36f0c-0156-4791-abf1-7afdd81af40a CLINVAR:1338106 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03f6d654-45b6-4359-ac1f-2c8ea57a5290 CLINVAR:1338106 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9787557b-d1ab-467a-8c76-bd83ac2c5f01 CLINVAR:636973 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 000b561a-92e1-4f20-bf51-07bc53f18350 CLINVAR:636973 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 118f7cab-68c1-47c3-87fa-ff1f832ca414 CLINVAR:1351534 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bcc7bb92-edfe-46b2-bbd8-9809074c7da2 CLINVAR:1351534 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0b13f2a-197c-4134-a50b-80fff09da10f CAID:CA338300357 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ad1010da-d037-475e-b8ad-7163ca2ac306 CAID:CA338300357 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89da5d83-29c0-483e-9ab7-2deee4513be5 CLINVAR:2580095 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c8b8c9cf-f69c-4cf8-8f48-e4e9c35ef809 CLINVAR:2580095 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8e812f3-53c9-472b-9c22-a4a06ac1fd17 CLINVAR:2414651 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 824dd97f-d644-45cf-90f2-e191fb450853 CLINVAR:2414651 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc7962ff-80ca-4918-8680-e8839ad11b9a CLINVAR:942111 biolink:genetically_associated_with MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e6babc73-99de-4355-95b4-4e6efd45ad55 CLINVAR:942111 biolink:is_sequence_variant_of HGNC:8977 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbc7188b-16b1-4dfc-83c5-958fb354e809 CLINVAR:1381345 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e4a6764-3085-4014-a3f8-48bf5175dba3 CLINVAR:1381345 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50600e92-7955-4dc7-9f30-c5a0b1af62a6 CLINVAR:411299 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 36582df7-fe37-4849-9bd7-d91ba3b59128 CLINVAR:411299 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd16475a-21fb-4210-9a7b-25e70d463ebc CLINVAR:426011 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c10cea4-38e5-4ab9-a909-914502c22be3 CLINVAR:426011 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49b17a42-6e6a-482f-9d19-953afae72bad CLINVAR:11917 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4e0d923a-1af5-4b9f-8ee4-499ecc7ecf87 CLINVAR:11917 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d70079-4466-45d7-acf2-cf127673e772 CLINVAR:553227 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3e74c788-ff6c-4c7e-b664-14f90b90fa16 CLINVAR:553227 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 105f6a38-5fa1-4486-aa5a-50bb196a43fd CLINVAR:1451219 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb3fb9e7-7986-4b85-844b-b87385229dfa CLINVAR:1451219 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2947269b-a239-46c9-b5eb-5586f61cf6bd CLINVAR:554826 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a12e14ef-fbcb-40a9-b134-a9093adba6e4 CLINVAR:554826 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de07e89e-b346-4fb1-be98-3a9ce5fe8f69 CAID:CA355962890 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06eac667-2580-4751-b849-71a98c35c098 CAID:CA355962890 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4df03e74-4da2-4ab3-b082-819ac8bd1fbf CLINVAR:558027 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a53e81c-ea0f-4480-bc37-682dbe73351b CLINVAR:558027 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef6e5835-c429-4263-8acf-13dbf12b310e CAID:CA355962113 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cc916301-fe2d-4925-a078-fb9a5fdbb3e2 CAID:CA355962113 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4386dccd-7416-402b-bb12-dc8264087b04 CLINVAR:2058952 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7aff7d54-ebaa-410e-aa15-b01679a54c95 CLINVAR:2058952 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bff93fa8-2839-4e2f-959c-549523574db0 CAID:CA355965300 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 42bf27a1-0c16-4b84-90a5-55cafdd2d0cc CAID:CA355965300 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6fe8a5-5bec-433e-9cc8-81a736a2f3e3 CLINVAR:1067236 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82476663-582d-4462-b236-b78c98a9fcb8 CLINVAR:1067236 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5f1da38-0188-481f-8681-4c01ed443ab0 CAID:CA355963308 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 550f2eda-69bc-4e58-9c58-0148e7ae29d4 CAID:CA355963308 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8926acb3-c9ee-48a9-bae3-0763ec3afef0 CAID:CA355965312 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 33f7d3e6-3c5c-4336-8031-47c91517f87f CAID:CA355965312 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52c4489f-e048-4759-8f0c-3b4368bf8aa9 CAID:CA355962740 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50f921ec-058c-44bd-84d8-167f75ea0ee6 CAID:CA355962740 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6811c019-d684-461a-a3ba-42eec7ebf84a CLINVAR:2432770 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fcbd2e55-89bf-4001-a8ac-66be31969736 CLINVAR:2432770 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc8856de-98a0-459a-ad7b-3424836c42d5 CLINVAR:222995 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 41c88cf4-78ce-45a7-a7fa-2f7be48c0ed5 CLINVAR:222995 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53089fa-f5c7-4f1f-aaeb-e90ffe6461f9 CLINVAR:92634 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c209ec1a-3ea0-45de-b84f-c62bc854fdc7 CLINVAR:92634 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44f95662-5403-470a-ba0a-0a474bf1be68 CLINVAR:554670 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f8e6a17-1e58-4567-92b8-aab2a9e4be1e CLINVAR:554670 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09126d6b-880d-413b-9b6c-23078c4de353 CLINVAR:2825913 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7b2d0625-0577-4e78-8f25-047ad6b50530 CLINVAR:2825913 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67b25fc7-4c6f-492a-b327-f8d269e258da CAID:CA355961706 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1c266f53-2bdc-4fcf-bd72-e13b17607897 CAID:CA355961706 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efd2ee04-1a97-445c-b6e6-c8a419607962 CLINVAR:2585078 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e3da0cc3-c240-469c-88d5-27ace852181e CLINVAR:2585078 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ba3673d-16d3-46d7-a3bb-0562d3f911f9 CLINVAR:1064675 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 26ebd652-30b1-48a3-bb8b-44f4552df24f CLINVAR:1064675 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 422b7a76-0d62-4ca5-b124-853b20fb29b7 CLINVAR:1742308 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7bf826a2-2396-4e9f-bbcd-5f0e9c1e067a CLINVAR:1742308 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39a1d607-47ff-4f99-9e9b-c2a520835ce5 CLINVAR:573410 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a1a8bd3f-bcfd-4058-9694-f2d661c4512a CLINVAR:573410 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 191c2dec-5c55-42fe-bd50-424aee6f9187 CLINVAR:52823 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6a57dfcc-2838-4ec4-9deb-64c685d000db CLINVAR:52823 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d01c3748-4768-4596-b90d-05ba7f2ad48d CLINVAR:462524 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c35dca6-d047-441f-af59-747617b3b48c CLINVAR:462524 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b4656c8-d5e7-418c-a4c9-cc4e52c9170d CLINVAR:38202 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03d3b045-c6a0-426a-a0fb-38781128feef CLINVAR:38202 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88764d55-2b4e-4f7c-8c09-83057343c52f CLINVAR:481525 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6b535f09-d57d-4270-87f0-af03f1f4ccad CLINVAR:481525 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c42c24ab-b79e-4c33-936b-f0805fc74075 CLINVAR:409429 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen cd63e79b-cb74-46ff-b301-b3c4cee8ac54 CLINVAR:409429 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2847be9c-d995-48b2-88a3-c3b7992ec3a7 CLINVAR:126168 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4720704-3475-48b8-b322-031e8097beac CLINVAR:126168 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5809353f-7b9a-4e6b-bc70-cbacfde31a3e CLINVAR:545487 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2a585cd9-3706-4d8d-8f91-3a905cdc2355 CLINVAR:545487 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 207feddc-32f1-4872-b5c5-3418a9da33ba CLINVAR:52513 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ab3d47d7-a3f4-4d27-bc28-a1ba209de9ca CLINVAR:52513 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46346487-9510-4ba6-9112-1b439b2dc555 CLINVAR:96860 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6d1fb74f-6808-4dd5-9d64-62c2f7570d68 CLINVAR:96860 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d96c67ad-5dfd-4cd6-92b1-d59c1bec9b9f CLINVAR:142784 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b99bfc3c-94ad-4f0e-b95c-4dbd47c3b18d CLINVAR:142784 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f11ad64b-1840-4301-b00d-0a72a5d6874b CLINVAR:182243 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf52f3de-7d3c-4475-a8af-9110589e9d82 CLINVAR:182243 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c835711-0a54-4d09-ada7-1b72420266e8 CLINVAR:38114 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 540c67f6-c66c-45d4-981b-30237fb08d5f CLINVAR:38114 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee7d46b2-d989-44fe-a370-9c36b5a03546 CLINVAR:91457 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b3795eac-7dd5-4d96-87c9-39939192f818 CLINVAR:91457 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3088c9b-a57c-466e-9f64-1ed995b12568 CLINVAR:225732 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a17cebdb-acf6-4f28-840a-11fddb0827e7 CLINVAR:225732 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 096051d6-bddd-4469-92c6-64afbd61f406 CLINVAR:423044 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 903f7004-fe54-451e-89f5-c0410d740f9a CLINVAR:423044 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0c59ad2-7b92-445a-bf9d-28264d1aecb4 CLINVAR:55613 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d4929ca5-6a54-4cbf-bd4c-7e385d56054c CLINVAR:55613 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebcd0a84-4105-4e6a-a6d9-d2b41674fb56 CLINVAR:225711 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 64464cac-cdf0-4828-b1fa-516b79255a82 CLINVAR:225711 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fdff60b-56d8-417f-9460-4fc0cfd52952 CLINVAR:91641 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 64735bce-9e2c-459e-8c16-32bc3ddee5f1 CLINVAR:91641 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0be751f5-16db-4341-a1c8-967767cdd340 CLINVAR:55425 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 130bf021-1ef8-42ef-bf58-5a9a0ab6f80a CLINVAR:55425 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8449c58d-6120-4400-9c15-f87a68cd6854 CLINVAR:54704 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e527a8c2-3455-4dcb-9a4a-bbef9385a3b9 CLINVAR:54704 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbc71f17-5fdc-4cb5-b151-203e5d966d1f CLINVAR:186913 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5fb13c72-8cea-483a-96fa-c2908a447c21 CLINVAR:186913 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf7bd9bd-667b-4afb-b21d-0d856074290d CLINVAR:55732 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a462c48-0443-4432-b1e6-4560fcef1dbc CLINVAR:55732 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddc725c7-5ec4-469f-89ed-9e6f78392dac CLINVAR:1683998 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bb4e6cc0-1986-4451-96e2-aeab5995fc3e CLINVAR:1683998 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a814eee9-30f3-40fc-832e-d82eccd7b088 CLINVAR:100408 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a2def5b-6212-434d-97b4-37afb7ab143d CLINVAR:100408 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71dec92f-0ef3-450c-bf53-e1232a8baa94 CLINVAR:102805 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12728062-d3b5-4644-955a-b5c4c71dd7bc CLINVAR:102805 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba79506-348a-415e-b7dd-cc04352d534c CLINVAR:551287 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 959e4a0e-73a6-4386-a2e1-334f0271f67c CLINVAR:551287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b7522e4-901c-4469-983d-e9e3f10ac84c CLINVAR:284945 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f909de1b-d564-458b-8b6f-5069f3e3d5a8 CLINVAR:284945 biolink:is_sequence_variant_of HGNC:10805 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c880d358-3f31-44ae-a270-060d366a1c66 CAID:CA712895444 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 55ef6f13-21b8-4e59-b106-5999c25497e7 CAID:CA712895444 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 288f5bc6-dca3-40c7-9fea-1efb4446bbaa CLINVAR:217152 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8419872c-d47f-4bb1-992e-9b5affd81d78 CLINVAR:217152 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dd53748-83d4-42bd-8a15-a032171cf3c4 CLINVAR:282617 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0eabb5ef-4bc6-4a27-8b27-6759dc354cd5 CLINVAR:282617 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cb7f418-026c-4834-a11e-31b8d5cb32be CLINVAR:551237 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 968164e4-5dfd-4b50-acbc-51453f01b8db CLINVAR:551237 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f27afbf9-b397-4c85-b915-56d6051e3b8e CAID:CA347224828 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e263945b-1802-491a-a4cf-ff06ba75963c CAID:CA347224828 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 476a8d7d-6aca-4b93-924b-2787ac773d29 CLINVAR:6665 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a7fee87-0b35-4d8d-92ab-efd213d96362 CLINVAR:6665 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af368a9f-17e8-4d2d-90ba-b497ee1298b9 CAID:CA2832612270 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 36f974ea-528b-43e2-9d83-4f2dc77cf8f6 CAID:CA2832612270 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b216888e-26fc-4150-b2da-dd935342a514 CLINVAR:498267 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9c55bc5d-80a1-4730-beec-9424d7bb5709 CLINVAR:498267 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03ca804b-6223-4dcd-a9fa-436506fd1c1a CLINVAR:285130 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7786e668-d0b3-44b7-8615-97af233ec202 CLINVAR:285130 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc77e284-5b93-4a1a-b6f4-7ea8bd7cd6fe CLINVAR:1971 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 040be519-8c38-47cf-b33e-7dd1e54a3800 CLINVAR:1971 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc2175c-d826-4ecf-a8d4-6cfc71284fc3 CLINVAR:1070168 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d6a577d1-24cc-40cd-86f8-3c3cd77a21a7 CLINVAR:1070168 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7d0bd2f-9ede-4b6e-b96b-962fb4b64ec2 CLINVAR:660211 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fcbfec73-0a16-4ddc-a66e-c4603bb4c305 CLINVAR:660211 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c30828d9-58d3-487a-bbbe-7b3206902926 CLINVAR:863577 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d97f640c-036c-4f13-91f3-4e8f2cd2d6ad CLINVAR:863577 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d070707a-b826-42b7-bad6-224bd7e900b3 CLINVAR:13144 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 89dd4962-74d8-417a-84aa-330abf84d81b CLINVAR:13144 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89a5ed3c-138b-4d7a-8f91-2ec3423cc491 CLINVAR:960496 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 49e60e08-b51b-41c3-917f-803e3f8353ab CLINVAR:960496 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b71bbee-b951-4212-be6b-ec2a59239d55 CLINVAR:370856 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7470563d-c740-424d-b135-98a81dfb4fc2 CLINVAR:370856 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2db6ef79-707d-4cfc-bb8a-850c3ce67a85 CLINVAR:194315 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12907929-a003-4eda-8d69-a389a6da3af3 CLINVAR:194315 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6950d9b6-e028-4e86-9a18-1bf64bc58789 CLINVAR:421804 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6f35a17e-a0e3-47aa-8519-13ca1ddaab08 CLINVAR:421804 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 353a1ddf-284a-48ee-8986-f6d1ca345635 CLINVAR:127812 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f80fd41a-4010-4d45-b302-f04fc4347333 CLINVAR:127812 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7366a5f7-e609-4b51-b6b4-6ebfa026e96f CLINVAR:1375764 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9e93f3a5-0e28-4f82-a4f7-0009857436cb CLINVAR:1375764 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6281de4-15f0-400c-949d-4bbe26110d12 CLINVAR:1524222 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 32f947a8-731a-4a25-86a5-fa7086742cbb CLINVAR:1524222 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d80a5df-dc74-4850-a914-50eb98987a1d CLINVAR:490175 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13e60bbf-4522-4916-9a5d-5fdfad513ccd CLINVAR:490175 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91f2d36b-2ed3-42a0-be6a-874728a1af5c CLINVAR:1696146 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7f0689e7-95ef-4585-aac5-06e5885968a8 CLINVAR:1696146 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13ef271c-48d8-4c49-ac36-2cec9c74ca52 CLINVAR:627374 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ab33303c-d6dc-4416-831f-2f4cb5dddb62 CLINVAR:627374 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen facd3018-275c-4f44-925a-f21e4e4dd6b6 CLINVAR:1986858 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a821f37a-45f3-4ac5-b0d3-ebbd25380a9e CLINVAR:1986858 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa9b2192-8583-40ef-ab08-ddc59d86a825 CLINVAR:2946266 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c1100d44-f64f-4c86-b37d-d0818fd3d5b2 CLINVAR:2946266 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95d59ed4-7dd0-4a59-a66e-9683b7228c8a CAID:CA23577160 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7be1e547-7cad-4c44-9f3d-99ff447f1e10 CAID:CA23577160 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen decec933-83fe-4ad8-8ce2-87d04cfa2b46 CLINVAR:2137414 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bba43926-f837-4c41-a062-873b70fb5889 CLINVAR:2137414 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b3f13e2-97b7-41d7-be75-5f30116f5c0a CLINVAR:829832 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 39e73ea2-8a50-49e8-9a33-b63e4acd0277 CLINVAR:829832 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f13e04c-7252-40d4-ad75-5f3775de358e CLINVAR:235256 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 974cd61d-83f1-4f7b-b9ae-1f4bab242477 CLINVAR:235256 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43e75645-0606-48ab-bfeb-0ba4c5f376a6 CLINVAR:98900 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 96414580-7d45-45e7-bc44-806ffa01de28 CLINVAR:98900 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efc2b945-10ab-4ece-9f56-1ad12364e48b CLINVAR:1491487 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 72719ee0-f4eb-4278-b548-ac1baabba459 CLINVAR:1491487 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2056cbbe-4b65-4962-8383-9bc5a42094af CAID:CA354447929 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb45d697-1024-4788-9ea9-872b23943b2c CAID:CA354447929 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0291a122-cd53-4fdd-97c6-49b7ccb724de CLINVAR:3588372 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc147f64-bf92-46ee-84af-590551a76153 CLINVAR:3588372 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7139d339-c13d-4ac6-a678-f893bc046eef CLINVAR:2503896 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen be17deca-85b2-4d6a-81f1-aead07092926 CLINVAR:2503896 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0eaa0ce-c842-4dc1-b8e6-6c2f78aea4c8 CLINVAR:1691234 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 11999b8c-1cfe-4463-9dca-d651b076681f CLINVAR:1691234 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddc327f7-ea75-47d4-9e14-8bf5b64a0d66 CLINVAR:627355 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bdbf556-1f07-4da1-a73c-ebdb69b966dd CLINVAR:627355 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 409e3a1d-8851-4008-8e7b-0c130871bd79 CAID:CA658795219 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b9656855-7af5-460a-bfa3-8b2cfb8ee12f CAID:CA658795219 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d5c6a1a-975f-4ca4-9a93-2f4e7641a6a8 CLINVAR:1703859 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31895188-f379-4b0f-a7be-e8309603a779 CLINVAR:1703859 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bef3ae79-8602-4838-9037-4730a883a05d CLINVAR:16040 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3c28d36a-3601-4451-b603-e81b04d8f463 CLINVAR:16040 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 831fc666-f89e-46de-8276-4b727ee52547 CLINVAR:890136 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f5fd7952-f725-4c85-824f-063028bbfac9 CLINVAR:890136 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbb63d1b-050c-4115-aa60-6086847503c0 CLINVAR:2154687 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 40cf234d-ad28-4cb5-a6f9-dd66af7a13e2 CLINVAR:2154687 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1efc9b8-9677-4e43-8c37-c9f8edb21665 CLINVAR:2507419 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a67b4c03-d307-495a-ae53-771fcc2e34c9 CLINVAR:2507419 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b7e70a7-450d-4693-ba0d-b27e6a3da92c CLINVAR:932855 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0449aed6-8d15-498b-b576-adca054101c3 CLINVAR:932855 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19fc0529-d894-4512-afb5-29262207fbbb CLINVAR:541717 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d748fc50-6784-4bb2-86db-0d56af25f51d CLINVAR:541717 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e6438b4-bdaa-4c49-953d-643f17b98080 CLINVAR:2629237 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bf9f03a4-6108-4c96-b870-878fbbb6a216 CLINVAR:2629237 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c45d283-a5a1-4b85-8dd8-e8f8a6fb4428 CLINVAR:2671648 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e697b5b3-cbd3-4560-9f4f-0b6d565af7db CLINVAR:2671648 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aefa9058-f9d8-4ba2-9cea-42ea59638430 CLINVAR:1930166 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ce39da02-3cdd-479c-a3f6-e45f2cecf119 CLINVAR:1930166 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbef0d3e-3173-442c-a150-3a6573f784e6 CAID:CA343724600 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9b976ea4-f34b-4c4d-80b1-5b19b65b8dc6 CAID:CA343724600 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e2ec123-87d3-4b9d-83b1-09d38b34b954 CLINVAR:448982 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3801be67-eca5-4d16-8358-b617cbd9fa5b CLINVAR:448982 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cbf1f9e-3334-4b29-b462-ddcd466bf462 CLINVAR:285852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c5342b98-5de6-452f-b7e2-cb7c7b3ce5fc CLINVAR:285852 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f18f2226-9b85-4186-b183-d277db456448 CLINVAR:203584 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5aa9f3d7-b796-4745-b96b-20c15e804359 CLINVAR:203584 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 358b0550-a0c5-4519-8209-3e5377f29be0 CLINVAR:166647 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 02e66b68-8a31-4a8c-9105-b3ed53f4d1f2 CLINVAR:166647 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 182aa6e0-0710-4d1c-a8a4-0179b2eeaf2a CLINVAR:932837 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7982697c-7399-4740-8122-891465b6eead CLINVAR:932837 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 225b631d-3614-41de-bfa9-46846f0aca34 CLINVAR:193786 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bcae70e6-63a1-4a1b-991f-8d4ec5806379 CLINVAR:193786 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99fadd3d-b731-41f3-b2c8-bed741acbd17 CLINVAR:100923 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2188402b-3cef-4f5f-968a-be8f7bdf792a CLINVAR:100923 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3d692ff-9107-4560-8a45-04b4af44a90d CLINVAR:1068471 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d89daddb-b36a-40bb-9c7c-c9db2367a4b7 CLINVAR:1068471 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42c445d9-ed58-43c2-bb6f-b80513be2c05 CLINVAR:18021 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c94593e2-a063-4b74-971b-32c586087d38 CLINVAR:18021 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4861b53-852d-4791-ae43-32f623bef26f CAID:CA343777475 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e8d81164-dc8e-4779-86f7-f181dd3e8cb7 CAID:CA343777475 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24c8024d-8b29-4251-80b5-7b914af023de CLINVAR:1997307 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63606e6d-44f7-47a6-8a7e-9a2752863e7b CLINVAR:1997307 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 283b299d-027f-4a7f-96ea-70a6a0f79fd6 CLINVAR:1001692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5d2d6fd5-696e-41b2-bfb2-15f95a38a5b4 CLINVAR:1001692 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b4ae7fa-ac19-44fc-a20f-1b124d63b2d7 CAID:CA32782248 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8faf5f31-1dd6-456c-991d-da703637a257 CAID:CA32782248 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 928808b6-78ee-46b8-adba-c7669abb9021 CLINVAR:1353268 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b3a6eaf-4b87-4cd7-a284-911889e72fe9 CLINVAR:1353268 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9af0b09a-4b6d-4710-bf55-38fd54627104 CLINVAR:1678105 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a7cc3f43-7f12-420b-97d7-f09e093a7098 CLINVAR:1678105 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd926d6f-14da-4280-ae0c-7d9c4b4bed0e CLINVAR:1324499 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 05b580ea-2244-4866-8e69-257067a88236 CLINVAR:1324499 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5d4fb1a-6f4a-4a71-9399-ef41ec947260 CAID:CA2695233282 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e2b7dc7a-71ae-41c7-b697-1d095ecc6ce7 CAID:CA2695233282 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6835c5f1-104c-458d-a18d-7cf6b76b2228 CLINVAR:2907569 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0d63af65-bc0b-45af-ae57-bfbee4e748f2 CLINVAR:2907569 biolink:is_sequence_variant_of HGNC:10295 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff4178aa-5c66-41d5-a5c4-96ca56c3634c CLINVAR:2736680 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e82a0a61-7a25-4b76-b719-d3175d4a83a0 CLINVAR:2736680 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 190bb42f-c5de-4325-88aa-8ace29a9f687 CLINVAR:972792 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4ec5b41b-8b8c-4e5b-af45-29dfe05864e8 CLINVAR:972792 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b4442dd-aec7-471e-be74-b2f6eb80627a CLINVAR:2736673 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af987404-b468-4652-817b-03a7b64f2606 CLINVAR:2736673 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56f5ea67-60cf-4e88-a905-40597071d688 CLINVAR:935900 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6df853b1-9ca7-4e1e-96a6-77cbec438b38 CLINVAR:935900 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af671628-80e1-4688-93aa-7dd847c4159d CLINVAR:2727745 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2803584-b8b2-4f3b-8311-15cc6c415f2c CLINVAR:2727745 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc8af572-b6c9-43cb-bcc3-8259d04ac7a3 CLINVAR:1209876 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7a06c020-4574-4995-8c85-425351b3045f CLINVAR:1209876 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dc38248-ab30-4ea1-9419-8d2ca01ebc90 CLINVAR:929411 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 161517c7-b727-43b4-bc1a-2d88ab33786d CLINVAR:929411 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9298c801-652a-4c39-b5c0-084a6dd3469c CLINVAR:30563 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 42b3ee90-25c5-451c-81a8-8ab326dbd436 CLINVAR:30563 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62180850-ba50-4076-ad13-a88f6378868a CLINVAR:933077 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97c955a4-0b70-452d-97fa-781358422721 CLINVAR:933077 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a54a5ec4-cef8-4fd7-9f79-c7d6fe4182f5 CLINVAR:3501939 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5e197a45-d381-4986-9062-c243ce3b6bd5 CLINVAR:3501939 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 951113b7-bce4-4c1a-9b5a-a549fb454cc3 CLINVAR:2903970 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eb9595d5-ef56-4d33-9b74-1f36fb46b430 CLINVAR:2903970 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ac36287-00a6-4baf-9307-48740ac637b7 CLINVAR:657274 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 01ed30cf-efef-4d59-ba65-671537ef29d0 CLINVAR:657274 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3aeaa7e-21df-4800-a19b-8e27d28f44d2 CLINVAR:2445404 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5f4afb97-30bd-43cc-84bf-4a68c80cd3fc CLINVAR:2445404 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 680f3930-6c92-4e37-a03e-e467b9fc9e29 CLINVAR:183109 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f3db7d0e-2464-4999-8a7f-ce2bb2b6a7ce CLINVAR:183109 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4745e3a3-af90-41be-b058-3529f2338f21 CLINVAR:226350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 5c34a073-13ec-40be-8f8e-295b3d943424 CLINVAR:226350 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf8c21c5-0759-47e9-8a2b-526bcb91557a CLINVAR:3074081 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 34d9aac0-ec14-4cc1-bb5e-1e544dd2a4ba CLINVAR:3074081 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fe3d7bd-53fc-4ed0-96a4-269cc40d0cd1 CLINVAR:441214 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2e228d55-71de-40b4-acad-fa620eabf369 CLINVAR:441214 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47d472ba-04af-4073-b6d5-52ab2d4c6032 CLINVAR:99292 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a2f59d5c-084a-4b96-955b-3fed74d3c766 CLINVAR:99292 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 977a976b-8ea8-461c-ab22-2a322c37b11d CLINVAR:417992 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ffcdd2d4-d164-4344-8d39-7f190aa98b06 CLINVAR:417992 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01b4303d-55e5-452b-9d56-2e5ab879c5f0 CLINVAR:298237 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 835d2540-9022-41b8-9849-cc29d619ba7f CLINVAR:298237 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 121046be-e6fb-4464-96b1-eea47c38920d CAID:CA386963839 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2a499dff-7721-45af-bee2-41a97452affd CAID:CA386963839 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f1c720e-4297-4c4b-928d-392259f8608b CLINVAR:14944 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d86b8236-765a-4955-9289-2b4c7805ae2f CLINVAR:14944 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e778187-ef68-446e-b965-246900ae41a1 CAID:CA386964102 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97f77071-73f4-4c73-93de-90c4970e7337 CAID:CA386964102 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57db5aec-cda5-4d42-a5e9-cc2c5be290ed CAID:CA2573051299 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 70c6b39b-22c4-4de6-8472-42ed72d602f6 CAID:CA2573051299 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a147a7b-80e8-460c-a434-25b73ad0f349 CAID:CA2580612115 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e379c9c1-68a2-4a8d-b390-55e1ca8764a6 CAID:CA2580612115 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 333bd899-f0e9-444c-9a5d-da1db884df14 CLINVAR:585916 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2374d401-c192-4779-b673-cad6c3d740b3 CLINVAR:585916 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca61203e-edf6-4b6e-a82e-ef8bc372b18e CLINVAR:2635153 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5472ee48-2897-4801-8c9e-5a1f899a7f4b CLINVAR:2635153 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5405f935-2c8a-4dda-af6c-b1f59f511378 CLINVAR:1700674 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49e1c4e5-460b-41bb-acbe-46108a5c0ce8 CLINVAR:1700674 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1500c1ca-f800-4523-8e60-6efb9019c93b CAID:CA367398213 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 93979279-b92d-4387-868e-f37f4e1cb0f6 CAID:CA367398213 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7981aca-51b2-4ef9-9927-3a5fb132137c CAID:CA367398211 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 50ab111e-5764-42d4-a8ec-b16740808384 CAID:CA367398211 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2772c32c-f036-4923-a97c-77d8c31be51e CAID:CA367398219 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 58cfda7c-3a32-4ddc-8a37-4d2bbae5f72d CAID:CA367398219 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08adfada-9ef5-43fa-8f4d-0b08f82df415 CLINVAR:804839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1dfa2a3d-8df4-46e7-9271-b6ae2e3e1216 CLINVAR:804839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10df7a97-9dbe-4fe4-b35e-da3714ef9a3c CAID:CA367398220 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0b6d3b41-d0b9-432d-a046-8350fbf73390 CAID:CA367398220 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbf44ecd-0912-49a6-9dc8-939967e7d393 CAID:CA367400741 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df5e089d-71b1-41e5-ae5a-5cf2e79ed82c CAID:CA367400741 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49ebf03c-86ad-4430-be30-60860e1ecfbe CLINVAR:447404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6d64d1d1-8363-48df-9d22-302caa0a37be CLINVAR:447404 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db8d90c9-c3c1-4344-9d07-63e6120ac072 CLINVAR:1743101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen da0071ca-f5ca-4991-bc14-b52bae5b7474 CLINVAR:1743101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e88edc0-c28d-4f76-8a4f-f32cccc01c86 CAID:CA367401841 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b140ad7-495a-4724-a01e-e5a253fb5510 CAID:CA367401841 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b63d9bb0-2887-4eb7-8b48-53cbdd33f7dc CAID:CA367401839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1705535c-87e9-4542-97c8-bc5c71bbc269 CAID:CA367401839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27d71ab3-f97c-418b-987f-d1f81aa3ef8d CLINVAR:36259 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen df1f08f4-0735-44f5-88e9-a6356867f6de CLINVAR:36259 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12f29313-c65d-4ae7-bb7d-f0b321a614ff CLINVAR:1464253 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 67df4162-83a8-4795-a1c9-d9875dbb2916 CLINVAR:1464253 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 421fa7bf-bc8c-4096-b5d9-5430dc078d03 CAID:CA367401151 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5307d05b-ecc6-4904-848f-b1dc0cc891bc CAID:CA367401151 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1d642e3-af2d-41c0-aa1c-3ae044e0c77f CAID:CA367401143 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5306108a-427b-41f2-a637-92d773471ac8 CAID:CA367401143 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30fb601e-25d0-496c-8e50-f5973a8a0559 CLINVAR:3661587 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3bbcc988-d049-4426-bbfe-4fd81ef8cbaa CLINVAR:3661587 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d648106d-9e51-43fd-b4c3-d68f9d456a3e CAID:CA367401307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 186212ac-5fe7-4b8f-a6e9-1163b1322c8a CAID:CA367401307 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81f7efdf-9ca1-45ca-8f6d-35127c5bbb84 CLINVAR:1933344 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4bc145e0-0479-40da-976c-31f0e1ebf8d8 CLINVAR:1933344 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b42ba8a3-8063-48a7-8e34-dca29fb554f9 CLINVAR:1679547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 62c628ef-2ede-4bb1-9d32-5eeecfaa1437 CLINVAR:1679547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c44f86c7-c85c-4c0a-a362-ced15e76fb7d CAID:CA409110474 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen db6459f7-3b63-4a8c-9417-3622e13e191c CAID:CA409110474 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7516c50-53a1-4f82-84e5-155aa50fdc23 CLINVAR:3664830 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 36711134-f149-4c29-8709-e76e6007dbf9 CLINVAR:3664830 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50ed7860-1dae-4206-b201-b509aea44fa0 CAID:CA3250171760 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1c4eea9-f9f7-4c77-99c7-93da57a54638 CAID:CA3250171760 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb461985-22ed-475c-910b-d6f5f321806d CLINVAR:68535 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1cb0e486-2699-4ca6-bbc5-ce5fae805a16 CLINVAR:68535 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f23dca65-81c5-4a9e-b2a9-d1811e22b1cd CAID:CA349071276 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e1d44ecc-a3a7-4919-b638-4ae67582b4a5 CAID:CA349071276 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abd92877-505e-4adf-bd99-4a0f17644090 CLINVAR:4079962 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3a24e479-6ec2-4e45-99d1-9ec28676a000 CLINVAR:4079962 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd89d39e-ed7d-4e80-b0f8-2fa1c726539e CLINVAR:68667 biolink:genetically_associated_with MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e2885c00-18a7-443d-9d76-75bdae6a928c CLINVAR:68667 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a99bd2f7-f9dd-4cf3-9c49-840308ca9e4c CAID:CA349065650 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 078223b4-37f1-4dd9-9e31-286ad8e590f0 CAID:CA349065650 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8bc628d-a381-446a-96d3-9c7ae84275db CLINVAR:189965 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6815de00-6131-4f31-8dc3-a61de45573f8 CLINVAR:189965 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf6d7619-504c-437f-8bd7-8b4cd3ce0725 CLINVAR:646111 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7c089375-5c22-4d15-a9b3-a8bb1767d5ef CLINVAR:646111 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95069fc0-5072-476b-ba6a-c6d246aec15e CLINVAR:1171040 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6f33c9d3-55b9-48e6-a48e-c1951f9354ca CLINVAR:1171040 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edf75450-7b06-4670-87bf-67c1b0d30c00 CLINVAR:1454181 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 80b222fb-ac3c-4064-b897-7a7562005d63 CLINVAR:1454181 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd658358-4f6c-441a-896a-633a755ba045 CLINVAR:375836 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 18d0a047-746e-4ca9-adb9-925a83ab963a CLINVAR:375836 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0c19261-e1fc-4518-9fc4-f0c9a79c1ab5 CLINVAR:440532 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d86bca03-9161-4494-a50b-71ee6cc22d22 CLINVAR:440532 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0c1bf65-3c0f-4f7e-b44f-2881412d1aee CLINVAR:265904 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e73a9f2-0aa5-4ca2-bdd9-cdc3e7394733 CLINVAR:265904 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e169fe4-bc0d-4477-9518-6cdbfd228170 CLINVAR:440616 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bf9424b7-17ff-41f3-a92d-c6de523162a0 CLINVAR:440616 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da781b6d-f4db-47ae-a458-d7be72008b17 CLINVAR:251371 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6ee93aa5-34a2-46de-8f0d-c257d5420c0b CLINVAR:251371 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6406e282-3f45-4c0c-b8f7-508216bb6e42 CLINVAR:440656 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0521b26f-979c-476e-986d-472df7c3c357 CLINVAR:440656 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 567df42c-31ff-44fa-b928-fb822dfeaa88 CLINVAR:440551 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 85d69349-51d0-4151-8f53-b69d79a4cea4 CLINVAR:440551 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7a3f344-865a-40a2-97bc-efe2e9c2ea70 CLINVAR:1958 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 237e2441-8a5d-4e22-ac1d-3784c4a51022 CLINVAR:1958 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcf7d429-3434-4feb-823e-d6d0ec0d9d38 CLINVAR:10025 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6342d8db-d65e-426b-8a29-bdb197d32a46 CLINVAR:10025 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a062d83e-78f5-4636-9269-fe6f46baf52d CLINVAR:1045150 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 938f0d5f-72a5-41db-a379-dcd80cd1296b CLINVAR:1045150 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d966527f-6143-4fab-8357-8a316683b740 CLINVAR:1322957 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10cb5b31-a20f-4b30-af43-6cc463217c6d CLINVAR:1322957 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cfd79bc-9368-417e-8b0c-5469d3b8d3f6 CLINVAR:1687091 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 04b37b3f-cf4b-4c61-9df3-8d452c71dd74 CLINVAR:1687091 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb89fda-4082-4bb2-942b-12978f1fa542 CLINVAR:554593 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d482d8b2-7b7c-4acc-ae51-069320dd419c CLINVAR:554593 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 670cd785-2988-4de0-bfa3-660c095a57cd CLINVAR:3639714 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen aaff107a-e760-4d49-9850-2808ea139cbd CLINVAR:3639714 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6222171d-589b-4983-9fc7-9b6d590dc97a CLINVAR:553029 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c6023b0-964e-4378-baef-33e1059c62c6 CLINVAR:553029 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14000ad7-74e1-4c08-9d6a-3fc671787cd7 CAID:CA355961926 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fd63d7e1-9125-4391-b5ba-74d09c758a5a CAID:CA355961926 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b4fba29-7eba-46be-bf4d-0ee6ea2c95ae CLINVAR:1076378 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6f4e0c5c-ddf9-464a-9e9a-a3f29b6c09b6 CLINVAR:1076378 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d3a528-e244-4c77-8afc-2f0c9684a3cf CLINVAR:2145829 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 692e0fde-331c-4a22-a462-40bb4fe0eee6 CLINVAR:2145829 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fed8642-b02f-4475-893b-9c649b7717b4 CLINVAR:2184620 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 16e1120e-84ef-4b11-aa71-77aefd795183 CLINVAR:2184620 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efcb3e65-b50d-4b81-a8bb-6f946a64b2cc CLINVAR:638077 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3527bc53-13dc-4641-a517-6e5c74a4811c CLINVAR:638077 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deddd278-83ae-4747-9fed-d79d12b7303d CLINVAR:1328979 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6efca551-bb8b-458b-b835-5cfabc8b6641 CLINVAR:1328979 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30c4061f-2136-4874-936c-2556e04411e5 CAID:CA658760370 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b1cbaed6-2c0c-4a27-95e5-279d2147970b CAID:CA658760370 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f026ae60-c0c8-46e4-bd35-06186431d5a7 CAID:CA397317465 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen daa97ac9-14d6-49fb-b333-40efbdf20515 CAID:CA397317465 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8509c08f-e279-4640-9461-1cddfdb3b653 CLINVAR:1031446 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f4beada1-9bff-4e1a-9f0f-cb648be5c20b CLINVAR:1031446 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d0dea38-061a-4457-8a66-ce4e665cfe97 CAID:CA658820739 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d980b72c-1273-458d-afe0-d1b33f6f854d CAID:CA658820739 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cffde51a-fd07-46c7-9c95-9d035d3926d9 CAID:CA3250151382 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7725ada7-e560-4862-80bf-f94ebb006930 CAID:CA3250151382 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80d68b97-3823-42c7-8fa5-da75bc4b6a96 CAID:CA2580611803 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7395b447-119b-4600-b6d2-d0053dbc3777 CAID:CA2580611803 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afea7f0c-2bf7-4bfb-bc93-e0391bdaff79 CAID:CA410677368 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 87a3f3f3-e1ac-43c2-b7c4-10d1ff197df5 CAID:CA410677368 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdad40e3-9137-4f2c-9bab-f98f918840f9 CLINVAR:1691233 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 46dabb5e-a0c5-49f2-ac2e-cccfb2408a97 CLINVAR:1691233 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96288573-e7b4-469e-8df3-9c89a84ef86d CAID:CA354447595 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d306320-562e-4b89-919d-2f1f4a951eca CAID:CA354447595 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91d9880a-e7be-41b6-9d6a-c00cf20508b3 CAID:CA354447724 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1a871a56-eb50-45ef-8fcc-e0f7fa45aac9 CAID:CA354447724 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0407f22d-52f5-45d5-afde-0d3bc6f65ee5 CAID:CA354448412 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e327375a-c9e1-44f0-8d99-dda515aa2174 CAID:CA354448412 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d57a16bc-d8c2-466a-98d7-9472c0d8b880 CLINVAR:1683228 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d9ad7672-94e4-4eb0-98f9-71a6f1e79b52 CLINVAR:1683228 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ed7a258-82e1-4dda-8cc5-2646cf470681 CAID:CA2586965987 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d8ec19af-7157-478e-875c-8925c8202450 CAID:CA2586965987 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d610c68-9eb9-464b-8e88-07052f6529b7 CAID:CA2586965989 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ace23d1b-ae40-48ed-8f6a-7d76914c3e46 CAID:CA2586965989 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cc6a7f4-0b3f-49e1-95ba-1c6414a9cb9c CAID:CA355963142 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f0d95b52-769e-4454-a895-dee815550942 CAID:CA355963142 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2670b5b-7f79-4bf7-9d18-c1669df1826c CLINVAR:2577224 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 79aeab13-5363-49cd-9f21-f6d3d07630cf CLINVAR:2577224 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41ae061d-1a26-4894-b0af-9ac848b6577b CAID:CA414915827 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a64dff06-a3fb-4d38-8551-fecc62e5d87a CAID:CA414915827 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73c918fe-1b71-4f96-8738-d74fa716c907 CLINVAR:826488 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 004e4831-5a53-4eac-9dfd-f182c974d344 CLINVAR:826488 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a56c83c-6e46-492a-96e4-afc8cc61344f CLINVAR:824232 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 213dc046-1b9b-4a14-8958-84130d02e70a CLINVAR:824232 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914df9f9-f712-4c1c-bf2d-6e74c0acb8b0 CLINVAR:422414 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 336555e4-7135-4c15-978e-5407fae476ab CLINVAR:422414 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c132a0a-8d8b-4981-b820-a3cd14f940de CLINVAR:2758378 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 696bc23b-7f8f-48f7-99c8-2ad603ef0712 CLINVAR:2758378 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 927c7997-782c-4293-8c46-5f2d90a1a4e9 CLINVAR:376633 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 296f9e42-ff2d-4c27-9177-7d9fb57bcc23 CLINVAR:376633 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ebd4b17-4ed7-4ae0-a52b-085ccb612b32 CLINVAR:551723 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78a637e5-f48a-41fa-b57d-9622661269e5 CLINVAR:551723 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ffc3766-a49c-46d0-8331-085c6874834a CLINVAR:208611 biolink:causes MONDO:0009677 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfa097d8-5f75-4cfc-8ef7-8320b0dd76d4 CLINVAR:208611 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78eb6863-b7a4-4dab-8426-106f167c3a09 CLINVAR:94305 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 577833c4-196c-4613-af53-e8f3d5fb1268 CLINVAR:94305 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c2f410-ceb7-43c0-a87d-1adb1555743f CLINVAR:195748 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f76df566-c9ac-4d7b-9934-48c3b6881b6a CLINVAR:195748 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef5bd15d-4b44-4dc0-9461-85de359053b2 CLINVAR:496979 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d733cd93-dee3-488b-9c30-7d8175d7cbac CLINVAR:496979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03e3c9da-1de6-4767-8acd-af6da79328a0 CLINVAR:288397 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen dde478c7-1227-4ea0-bd04-835674f31343 CLINVAR:288397 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b9523a2-c565-4961-b508-baa3c64f7280 CLINVAR:2441135 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8eea806d-d28f-4b08-981b-81a000d7d60a CLINVAR:2441135 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb227c86-98c7-46aa-893e-0fc9337eb6fe CLINVAR:217149 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cc7940c-a68c-44a8-a127-856d850e648f CLINVAR:217149 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a3ca73f-ff45-47c6-8f06-4d8a90b85325 CLINVAR:96679 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c69d634e-c2c4-44cf-b504-6892ee814f55 CLINVAR:96679 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4991bcbc-8070-47dd-b8b7-4b7cb5d5dcae CLINVAR:813969 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ec3dd656-ec4f-4b0f-8750-3c576293ef97 CLINVAR:813969 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a4b875e-2274-4bdf-8281-ff183d873357 CLINVAR:281140 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e3fff87d-9c04-4e5c-b250-ef283305f547 CLINVAR:281140 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a79d637c-b100-4932-af5e-14f48d9aa01e CLINVAR:198495 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9dfee21c-42da-46e1-96d4-7cf57ec478fd CLINVAR:198495 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a61d6bee-d33d-4d33-a768-a28b86810676 CLINVAR:2441119 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 25572de0-4032-4fe5-a75d-ebd4be789ce1 CLINVAR:2441119 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed15bcf-5a71-4924-8d33-b5af14e2a83d CLINVAR:288183 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9cb9c9c3-4fd1-4710-a037-8e21f94318e7 CLINVAR:288183 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 488eafb0-b88b-4e9a-8359-a22f00b151ea CLINVAR:281954 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9f2ece58-83c7-4a03-922a-1713938a2fde CLINVAR:281954 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e5e5e6-2568-4292-b4c9-128552cd6c11 CLINVAR:545663 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ca729431-cf6d-4ca4-af25-7158ab2f4c0e CLINVAR:545663 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 935369d6-403c-4567-bbd5-26443691e434 CAID:CA2586964930 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bc7a5eeb-77da-4b8b-a449-4f2b0442948d CAID:CA2586964930 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1025fca-cd54-45ec-a56e-d195bf24d8c7 CLINVAR:545009 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a34061c0-38f6-4982-a217-03658bca7cc2 CLINVAR:545009 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec04bc11-bf89-49c5-a886-6cebb1c8e868 CLINVAR:288442 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cec4f7c4-9ee6-4188-bf41-5f017591fb30 CLINVAR:288442 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 843846a3-e790-43d1-a131-dd57ff5dee59 CLINVAR:551236 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f711edb-97f5-4d1d-a346-84a972bbf007 CLINVAR:551236 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a53eb9b6-404c-4bd9-b81e-93511e0c63e2 CLINVAR:196175 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e53aee4e-b44a-412d-bb51-8c61162b88bd CLINVAR:196175 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c0bfd21-ec72-4b64-a210-58632e761580 CLINVAR:4067072 biolink:causes MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ee1690ae-74ba-435c-94cc-03f7794c8ef6 CLINVAR:4067072 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dcf565f-ac99-44aa-9ceb-9b8b4bbafd15 CLINVAR:94303 biolink:causes MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1fc0c69e-cbcc-4e98-a65a-6fc0e5f5723c CLINVAR:94303 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9872d467-81a6-4217-929e-81f9a800ae7a CLINVAR:282449 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 26cadfaa-8784-4e86-aeac-469a7d5a27cc CLINVAR:282449 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c827deab-587b-4dfa-abfd-41fe90feec24 CLINVAR:6676 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 49a33bca-6131-432f-850f-0cb9d9c7001a CLINVAR:6676 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d3839b5-8227-4e9b-b27a-4b7e2423b0b2 CLINVAR:2441144 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cb6884ff-d968-47ab-a417-935d92680de9 CLINVAR:2441144 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 436df3d6-a070-42b1-b5b0-7ecf8b2afe62 CLINVAR:498954 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 79d1336c-77b9-4400-bc35-c22dcc7b616e CLINVAR:498954 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85e721bf-5030-4d99-8982-1a9320f236e4 CLINVAR:1521979 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 22d774e7-f5e6-4023-9efb-293e95d1730e CLINVAR:1521979 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18d47ea-fca6-4750-941f-ccd874521f23 CLINVAR:658470 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a60a6ada-8f83-470a-8576-943a660bf8be CLINVAR:658470 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5a655c6-55f7-4045-a38b-97822379dd65 CLINVAR:288830 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen abc3a683-f48f-4c17-a4aa-caf3e6850878 CLINVAR:288830 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f9012af-3dae-444a-a457-a56727422e40 CLINVAR:2674972 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen dd8dd8c7-91e0-4ff7-a62d-ce22a6c04099 CLINVAR:2674972 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38c2e2a2-f5dc-473b-a342-1b333a319d02 CLINVAR:242527 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5cfd5f4-08df-4a3f-84f0-ef96db2d3b14 CLINVAR:242527 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4e7511e-2296-42a0-b7aa-a2916a214aa6 CLINVAR:567124 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1f5536b2-34cf-4509-a214-5505da13e7e9 CLINVAR:567124 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a81203c5-08d8-4577-85ca-e8f68ecab170 CAID:CA347220971 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 67db97b8-9dce-4c3c-808e-76a56877f4d2 CAID:CA347220971 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c78cb9f-51e2-4ee9-8e5d-eb526a3d5365 CLINVAR:94336 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97491521-41f2-47a7-8741-831edd96196c CLINVAR:94336 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52e9c5e3-cc15-458c-8a99-c15366d4b2e0 CLINVAR:283243 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 867cb291-ad6b-4609-b60e-220dff9129ef CLINVAR:283243 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39d4a11a-c4b7-4b5a-a9f9-5f7b3d864cde CLINVAR:284471 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 651083aa-13af-4713-9a7f-a07501c3799e CLINVAR:284471 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab1b093f-540c-486c-a6f9-44f18037ec7e CLINVAR:283475 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b329002a-5496-4337-a42c-9ae66c23fd8f CLINVAR:283475 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a099024-b0c4-4f69-b54f-638e569c9c18 CLINVAR:858838 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 416e2a97-186a-480c-a473-78158d2a96d0 CLINVAR:858838 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bb34534-260a-41eb-8fd6-e0abd9ee88e4 CLINVAR:17614 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45e6392c-4670-4be1-92d0-177cac70fe43 CLINVAR:17614 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 227bf2ef-239b-4b15-b895-f0e2713f352a CLINVAR:551477 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b3eed8c-0d4a-4d72-8daa-cd02b32a30cf CLINVAR:551477 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4d95ecb-ea67-4da6-afaa-7345ec549d6c CLINVAR:871348 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2c324ff5-2a39-4b5e-8fb0-906e2e2feb24 CLINVAR:871348 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20a378a8-c61c-4ac0-a1b1-585ba83afe96 CLINVAR:2163 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7033ec91-a724-4fbe-a7ca-2db825c33e16 CLINVAR:2163 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f36fee79-5459-4078-abfb-4244b0f7cca8 CLINVAR:280038 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2cf76cb2-98e8-4f65-8f50-268bcd23e7c4 CLINVAR:280038 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24d97c92-e43f-436a-92fd-4a064b557e31 CLINVAR:1491619 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7c118f46-cf40-4c55-9d70-6c20233b2c35 CLINVAR:1491619 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea4ca6bc-5fbc-4e37-997a-59c93373040c CLINVAR:597829 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3133c98a-aea8-47f9-9ba7-09f33d85fd2b CLINVAR:597829 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c80c820-4e6a-49c1-9e47-c1457765ff60 CAID:CA343724244 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97a2d8e0-7f89-46d7-b91b-9fa503bfadf0 CAID:CA343724244 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5224a43-e6f6-4be6-9ddc-d304809f36e0 CAID:CA2649105995 biolink:genetically_associated_with MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a372057f-4ec6-41df-929a-719e70d31037 CAID:CA2649105995 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f928f1c-addc-4ffd-8968-8f378de57893 CLINVAR:99343 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8da4602e-3faa-413e-9684-b1c349d38a4b CLINVAR:99343 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5db5293c-d547-471a-9521-2ab401d23051 CLINVAR:99476 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c4fb819-8c75-47cb-8ae3-87e89fb8d38c CLINVAR:99476 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 016da2bd-7b59-40b8-a6f6-1ec275c1b839 CLINVAR:650634 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c598518b-11af-446c-acdc-610d3043c068 CLINVAR:650634 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 004c0b83-85cb-493d-9af7-ee0c4d57d0b7 CLINVAR:501312 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 65c3be60-6135-48b3-9fc9-bc80859b7c48 CLINVAR:501312 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05c4791b-4b51-4c0a-9483-47329fbb93dc CLINVAR:14210 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 121c60d6-0cfe-4d31-80c4-df2ee89adb6a CLINVAR:14210 biolink:is_sequence_variant_of HGNC:10031 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 763b1265-cadc-452c-b8a0-32bf9e5b816b CLINVAR:1683999 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e595e729-d7ff-4045-9219-909319fc2633 CLINVAR:1683999 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af9b8897-c940-48c3-8700-b10fc086e321 CAID:CA2580612114 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d045b5ce-e8e5-4770-a916-de339771cbbb CAID:CA2580612114 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cc5d2ec-5102-416f-a17a-4e05cba34f5e CLINVAR:585928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8c458fd5-07b0-4410-b71b-4e5892c6e92e CLINVAR:585928 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fd757ee-e7c9-4632-93cd-2d3cd3df4d3a CLINVAR:3766052 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8b6b7df2-2f7a-4fcc-811d-bb2cf7e28b4a CLINVAR:3766052 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f97ee0ba-cf2b-4e61-bb46-e642ea2cac02 CLINVAR:2136531 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43bfb475-25fb-41de-a913-92e9dcb75f70 CLINVAR:2136531 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04e4e39c-da45-4e1a-a995-e8f48e1485ec CLINVAR:447422 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 78a92fe8-c746-4a01-9bf5-824bfb17f897 CLINVAR:447422 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f173291-5e73-4531-97c8-ba62231a93be CLINVAR:1720715 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen d06c7e94-e5ba-423e-a169-4507a3aa3ad7 CLINVAR:1720715 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db738ac6-5d9a-4dd9-b92d-a72f83b85704 CLINVAR:2202780 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e349b8f-7ab4-42d5-b402-7b1027781b3a CLINVAR:2202780 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a474d5e-089f-4f74-85c8-88d2d841b263 CLINVAR:2202779 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 28f9226b-c370-4f8b-ad6f-b47313d56e9d CLINVAR:2202779 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f4a16be-adc0-41d3-9c84-d243fbc557db CLINVAR:1048145 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c00a7fb-0c7b-4517-9429-247b4249f0e1 CLINVAR:1048145 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 709fe99c-a6f1-46e2-86e7-b576406f1da2 CLINVAR:99472 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f4e72ef2-f7a1-4c68-8562-149c87958b23 CLINVAR:99472 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41436a27-f9f1-4964-9568-9befd4986f71 CLINVAR:1457683 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 971949e4-64f6-4398-9f36-59a8d8ac01e7 CLINVAR:1457683 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc3765cd-769c-42b2-b1be-8c8f9b6b6a63 CLINVAR:1999524 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0a2edcf2-bb63-4d01-8bc2-1f0ff1cc2d99 CLINVAR:1999524 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2872106f-a339-4a42-adac-3a30d64c993f CLINVAR:99428 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 31a9e138-b426-4f64-ab5f-b30f16e0aa38 CLINVAR:99428 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7626f318-afe8-46c2-8fd6-0a2b88ba7c0a CLINVAR:18029 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 60962883-8560-4294-8036-68bfa3e90f33 CLINVAR:18029 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f0516d4-b0fa-4567-bd28-2180553b835f CLINVAR:2429353 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 98ee5bea-80b2-4b62-9b4e-9a62a43ac4b5 CLINVAR:2429353 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aba57485-d552-4822-9eeb-024c55cc77cc CLINVAR:18041 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03be1f22-dcca-4c3e-8871-abffe426a634 CLINVAR:18041 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30785765-0e85-4693-a67e-707466208d81 CLINVAR:18023 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e5ff2910-29ef-4c97-ba89-1021582d39cb CLINVAR:18023 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76cb3194-a5bf-4d4c-bf59-6d23edeca0ba CLINVAR:1028786 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1bd9208b-d6d2-4737-b920-9e4b175ab98c CLINVAR:1028786 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6428e162-c940-47c6-af9a-d5c3c0069984 CLINVAR:661362 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 75401076-965a-4759-a641-00d89d2f38cb CLINVAR:661362 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 455b79d2-100d-4153-8533-88e5acf3060e CLINVAR:618107 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6378970d-bc8c-41b7-b7ef-bc1a72854f03 CLINVAR:618107 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53efba22-c2f0-4af1-b89a-58a7a1e11351 CLINVAR:627155 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 10c22008-653c-4cdd-a188-d62e0631e5a5 CLINVAR:627155 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc7c4f33-0f4a-4f6e-93bc-91329f8dd562 CLINVAR:102486 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 319daf6e-23bb-469c-8138-de36189e238f CLINVAR:102486 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de61e3a0-3255-4dc6-9572-6654d36db5ca CLINVAR:458078 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8cda0751-bf39-4a36-9b77-dd9006fb3352 CLINVAR:458078 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2951599-41d2-4b54-b3f6-69bb7d9de89f CLINVAR:590456 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fc8d31e5-e21a-4d58-827f-84044531ff07 CLINVAR:590456 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8131d52d-63f8-44de-859c-3d64b9979553 CAID:CA2584893460 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f17c9efb-4896-420b-955e-1501d99b3e04 CAID:CA2584893460 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58a1affe-e040-49d9-9bb2-9914cfc717fd CLINVAR:2903463 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8b9e8fc7-6319-4816-934e-6731401a0c58 CLINVAR:2903463 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bd01901-dabf-4fae-b339-c9d847933af7 CLINVAR:557150 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 365b1ff1-4e11-413c-bdde-ce6d3589bc90 CLINVAR:557150 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8a296f0-e6bd-4cd7-9a2b-16c97633e91b CLINVAR:556156 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e4ae4972-afe2-4018-80e1-d9a19de7e2c0 CLINVAR:556156 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6551f0b3-a900-467f-832a-53007643d9e1 CLINVAR:1076379 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen d3ee5ee5-4f3d-4252-9540-ab057654714a CLINVAR:1076379 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33af1535-0359-479b-a5b9-c48df8d1d326 CLINVAR:554213 biolink:genetically_associated_with MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1aeb1644-e6df-4bed-beb8-d56e671bbb34 CLINVAR:554213 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5235245c-d406-4b5d-8d5d-df4003910efe CLINVAR:550458 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a9f43461-8704-4028-96bc-872528ffb1a1 CLINVAR:550458 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 898d460c-a8b9-4ffc-ba04-18a74f039938 CLINVAR:556184 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5cc8f8e8-9b5b-4d99-a2af-887fac4101bd CLINVAR:556184 biolink:is_sequence_variant_of HGNC:5391 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4fa3a33-f7b3-4dc4-aefb-125f31f7cdcb CLINVAR:440660 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bce50d43-77ec-4c2a-adc8-7346b6e10fe2 CLINVAR:440660 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bb8c935-0295-49a7-be72-08c441e0f8ae CLINVAR:440604 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 06388343-6e18-45b6-90f5-8c59068bc66c CLINVAR:440604 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fed44e58-4b2d-47ca-baec-0ab72fad01f6 CAID:CA3050953909 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 9fee794b-6a27-4f11-8105-1a2bf441ef3e CAID:CA3050953909 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa9fcbfa-a971-417b-8df7-7dfcb66a8d3a CAID:CA8314879 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24305832-0f18-4f66-9809-da1556315b00 CAID:CA8314879 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1356e75-7eea-46aa-b993-0ddf761982fb CLINVAR:4151 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 811105bb-2601-4c36-8d5a-8b1d2d3910d6 CLINVAR:4151 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bca4ddc4-fb75-4040-9c19-d33f8ed148a4 CAID:CA2580610935 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f93ba7af-257e-4b6e-bbff-4cd42168fb32 CAID:CA2580610935 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 735f63dd-be74-46aa-a4c9-bafcd9652f2b CLINVAR:993015 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 30718246-c8b6-4d50-ae9d-8c2540b1e215 CLINVAR:993015 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3734f86e-23ed-4a52-b9cd-e2b569f6feba CAID:CA354450038 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1d9df938-800c-4cd0-a2d9-4b2b25524646 CAID:CA354450038 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 091210c5-00fe-4e40-9c37-567464541484 CLINVAR:627039 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 31a80e4a-a73b-4dd5-82e6-f1b9e09fc63b CLINVAR:627039 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58609391-1adb-442c-b19e-77972e9ed6eb CLINVAR:13531 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5e7806c0-d2d2-4d5e-adb0-10a46be1356c CLINVAR:13531 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9ac444f-f20e-4372-8579-aa3167cbc32c CLINVAR:4687494 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4c45fbe6-a7b5-479e-ad16-1c5d60287a9f CLINVAR:4687494 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09ab0a1f-4dbe-4679-acfa-231f80402eb3 CLINVAR:52448 biolink:genetically_associated_with MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen eaec106e-889c-486e-ab2a-808ec82bfc79 CLINVAR:52448 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e64d599c-20c5-490f-90d7-2f61784254c9 CLINVAR:55433 biolink:genetically_associated_with MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ecd77974-c522-429a-9219-d1882d805cee CLINVAR:55433 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d59e08f7-8a3b-4f97-b5c6-d18afbde09c0 CLINVAR:232793 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b715c3d7-4b32-4ebb-933f-10e70154faa4 CLINVAR:232793 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c0c2c74-99e1-4701-94d5-b359d619ffc4 CLINVAR:3723841 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 77077803-99d2-45a3-bf2d-f1483b280d7c CLINVAR:3723841 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb34339-0a56-4300-9dea-1bd2b6a795dd CLINVAR:36227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen bc3c1503-2dee-4ff5-9cf9-335fb182ed20 CLINVAR:36227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0db62385-d8a9-4e21-89e8-759e1f08ff6c CAID:CA367401653 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 299486ec-6f82-4296-94d8-b2244690bd43 CAID:CA367401653 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1aa8fe2c-1836-4bb7-9f28-4e1da3f772f9 CAID:CA367401649 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 636694c6-20e2-4de7-91fc-5f7dd372be48 CAID:CA367401649 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78faed1f-94f3-49cf-87fc-cf422e876050 CLINVAR:972809 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 7171ae66-ae48-4757-abfd-661c9d2b4fc5 CLINVAR:972809 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06fa384e-56a1-478c-a40e-a331fa4bef2c CAID:CA4239675 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5099e628-a036-4567-8bf3-f4cafb4a2af4 CAID:CA4239675 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85a0a2ab-1312-4b56-8a73-cf073c82868d CLINVAR:447402 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 795b9320-3c51-4fe6-b284-90a2a706581d CLINVAR:447402 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19c1d706-4609-4013-b341-1fdd3c55070d CLINVAR:418448 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0653bba8-92b3-4b5f-8b0b-193784e18def CLINVAR:418448 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66dbb2f1-67c7-4a59-bf0c-de9b11d72e53 CLINVAR:2709658 biolink:genetically_associated_with MONDO:0015974 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1887f0a9-74d3-4a7c-b4c0-7cdbdc8a603c CLINVAR:2709658 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dc87dff-f434-41d4-b6f0-5f67265d5bb3 CLINVAR:1005573 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 945680b0-7e55-4924-a5ab-e9469681b683 CLINVAR:1005573 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d1ee20b-381e-4185-9ca1-59cb790e9af6 CLINVAR:65979 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 03f46c89-ac50-4cf5-ac6b-b2019ca32452 CLINVAR:65979 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 575970da-d3d2-4245-b2d9-c4b4eee76a6f CLINVAR:329073 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4a44f3a0-e953-4548-93cd-437e3a556ab3 CLINVAR:329073 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaf4ff8d-384d-49ed-83d5-23e7972b1218 CLINVAR:2035105 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f08fbd07-d475-42e5-b0cb-ecbedfafe37b CLINVAR:2035105 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 968a6412-757d-4297-9f28-3c2a5124d062 CLINVAR:2865406 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f983c506-2029-494d-a305-d02f4d66b5ea CLINVAR:2865406 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2eda852-5ab6-4724-b89c-a92b9eaf0e9c CLINVAR:99219 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 551efc60-2f27-448a-a0cd-5bf9f33bf1f6 CLINVAR:99219 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bbc24da-478c-4e3f-970d-673fac6bae18 CLINVAR:866229 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bfa9206a-46d1-436b-a8aa-4b369e06c854 CLINVAR:866229 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caa1d739-dba7-4de5-826a-7d856cf7f7ec CLINVAR:1639209 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3d9ae5a3-93d8-46ee-84e4-eef1de6fc140 CLINVAR:1639209 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd042dd3-bac7-44d4-9040-6fbf8038f322 CLINVAR:236129 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c1d22d98-d6c3-4647-8e0d-736df90d0988 CLINVAR:236129 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7dde1e4-ccb6-49d6-bbeb-eb5184bee639 CLINVAR:2664262 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1c228fc8-5d77-4946-a74a-26d738e22459 CLINVAR:2664262 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e64aa593-f6e1-4b36-aa12-2a0fa2c199d3 CLINVAR:2151916 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f8e21a28-3dfd-4f5e-8ab2-1aa051de1194 CLINVAR:2151916 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ab46ffa-b35b-4a8c-8110-8ac0ef1cbb1c CLINVAR:133098 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b8257f90-59ed-41d7-8302-0b45f2aa51a6 CLINVAR:133098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54ef3fe6-e563-4236-8e4b-13a2d31696ed CLINVAR:2440386 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 841706e7-a2d8-4af0-afe7-bbcb464d6846 CLINVAR:2440386 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 176d30dd-d8a4-4d2c-8434-51e47a413313 CLINVAR:52999 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e694cf7d-2ee4-4fe0-842a-8b22eb85353f CLINVAR:52999 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e61c3ede-6297-4bc7-9175-bbedd3e60f61 CLINVAR:517664 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 06b335ad-47e1-4e2b-b544-db9199c03eeb CLINVAR:517664 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21ac2fef-e62c-40d2-8ff4-217acd9640ab CLINVAR:635221 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f163a151-bdcd-4f87-8085-77c19329e082 CLINVAR:635221 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2490d6f6-74f7-46c9-9438-ad5f5817f10d CLINVAR:53101 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3fd90eb4-65d9-42ef-b0f9-ccaba18c1491 CLINVAR:53101 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2465eca-dde7-43b9-a067-11a8304f2527 CLINVAR:67087 biolink:genetically_associated_with MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 15938df4-2c5e-43c5-88d5-70a8c2558ceb CLINVAR:67087 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaf1f316-3e6e-4294-9719-335c8309f452 CLINVAR:52936 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen ccab7b26-4658-4d7e-ae6e-1260c9ebdb3c CLINVAR:52936 biolink:is_sequence_variant_of HGNC:6294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 867e1b28-b3f1-430c-914a-67cd490bfc91 CLINVAR:44587 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 8d4f9f13-eb99-4b26-af8e-c51804016f43 CLINVAR:44587 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9311dc36-568b-4d9e-91d1-cd8a4359bd24 CLINVAR:1723651 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 3b742355-5208-48ce-adb5-3591f3456c53 CLINVAR:1723651 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b58987ca-80f4-450a-aa5e-827a9f04ad20 CLINVAR:13343 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 274f043c-86df-4fc9-93be-b003f9ca1831 CLINVAR:13343 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2997e413-7772-4d02-8791-9c6865fbc4c4 CLINVAR:13342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0cfc2267-a42d-43e3-a863-44abbdcd3351 CLINVAR:13342 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b3b8cc1-9734-4ee2-aefe-2845d01008b2 CLINVAR:560190 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen aa1534cf-a581-42c1-9d14-4c36e37f599d CLINVAR:560190 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d518b5dd-1529-4cc1-bac4-ec16ab135ac8 CLINVAR:2229884 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e8b606dd-a304-416f-956d-c52598233adb CLINVAR:2229884 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 073d9352-cd6a-46aa-b5d0-72c49b9c4a55 CAID:CA2580612246 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 435a1c82-d943-4313-b9b6-821ea4cde87c CAID:CA2580612246 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43bb12b0-cf2d-40df-8b3c-c7f4d8073282 CAID:CA410676362 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63296ead-27cb-4610-9374-9553dc4824ae CAID:CA410676362 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b47c577c-c42d-4988-9f9f-c6541e2d361d CAID:CA2695224137 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 41ba35a2-52b3-45a7-9ed5-771a554f89a4 CAID:CA2695224137 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c3ebbed-5492-4dad-8525-bf671e7447dd CAID:CA410676379 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a61b4bc2-9295-494e-b8d7-9cd386e362e6 CAID:CA410676379 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddc7477f-ee80-4503-8b4c-1a57d487b614 CAID:CA410676935 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b7cf7da0-6343-4365-b2bb-bdec1758b553 CAID:CA410676935 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3eaaa11-b6cb-49c9-b927-5b08171f98b8 CAID:CA410676943 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 74574ed0-5903-4291-a615-671c7c7867b2 CAID:CA410676943 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62deab18-2a1c-47e1-86da-b926b3b74ef9 CAID:CA410677044 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 1183080c-1924-4406-a7a0-ee3b333f8318 CAID:CA410677044 biolink:is_sequence_variant_of HGNC:4440 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 616fbd11-a6c6-4087-98ad-0a408bbdd617 CAID:CA354447926 biolink:genetically_associated_with MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen f61354c6-04b6-4c2d-96a3-0e000fab060d CAID:CA354447926 biolink:is_sequence_variant_of HGNC:4444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1ffd49c-4d40-498b-81d1-cb0919ea7b33 CAID:CA8314714 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 711d81aa-0ec5-45f5-9b51-56b7e3b4f8f0 CAID:CA8314714 biolink:is_sequence_variant_of HGNC:4439 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70fe3b83-8c57-42a5-83a7-6e37247ea9ba CLINVAR:2570683 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4addced4-d087-4117-ac2a-7305a2233094 CLINVAR:2570683 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33744996-04b9-463a-88ae-60a2c192d714 CLINVAR:1330694 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9a126b60-8f74-40ed-8af6-2aacc3d7f843 CLINVAR:1330694 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec96f659-44d7-4cd3-90ca-cebbae9af553 CLINVAR:993126 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8db11c15-2ad9-42ca-accd-497a241e9869 CLINVAR:993126 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7df9a823-cc6f-4d24-b5ac-d021614a9ac7 CLINVAR:801294 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c5b10ad-8eb3-403e-bfc4-4717803b4984 CLINVAR:801294 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7f2f92e-3c41-44ac-9d0d-3885b5253c3e CLINVAR:36294 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 89728769-4525-4b08-94c8-b05454b9df7d CLINVAR:36294 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6349f3e2-74be-4e1a-a924-d4a8ab50ee82 CLINVAR:869245 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e014d537-346d-442a-93b4-bd7cc9799cc9 CLINVAR:869245 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f7be42b-fcef-46aa-bbb3-3de84cbea6df CLINVAR:15447 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9ff4cb5b-9147-4b18-a88d-954cb7918c05 CLINVAR:15447 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f450a1ec-7539-4938-871c-87b0a4d6449d CLINVAR:15488 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 51d82afd-0ec9-4029-938f-60ecb20d5e14 CLINVAR:15488 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ffc784b-9036-4ed4-b818-480f0304d062 CLINVAR:15401 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6899748b-e6ec-42f6-92a2-9e081936ab36 CLINVAR:15401 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1b779a0-f933-4b1a-91d9-ec529efb4c5e CLINVAR:799593 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 783a95f5-1aec-4ef7-9533-c423dab4c9e0 CLINVAR:799593 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9430004-f049-4a14-a563-3f6da5e707a3 CLINVAR:36312 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen bdf949bf-b73e-4ccc-a4f7-382a4d83e6f3 CLINVAR:36312 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d38abce2-2b77-46ab-90b8-748547940890 CLINVAR:15464 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eb5b19cb-a446-4d50-868f-e0679cd0d21a CLINVAR:15464 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee212137-b514-484c-b001-4b03e2a3a7db CLINVAR:15458 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0630d8f8-acf6-446a-8daa-d6e9f6d2fcc6 CLINVAR:15458 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4d5fe17-993b-424a-9f53-e1140b72696b CLINVAR:15483 biolink:genetically_associated_with MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 949cf1f7-b842-4c8e-acba-4f1fd7789a44 CLINVAR:15483 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c888d71-925b-4a1c-9bc0-02663f326ca0 CLINVAR:15457 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6761d710-7987-49a1-8ed1-fb0618d0ecdb CLINVAR:15457 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d51728e4-0bc0-451a-a235-13cb3ddd15b2 CLINVAR:15454 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 72a51eb9-f30f-4445-b192-5a4d7b404e7c CLINVAR:15454 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a39c4327-75da-4c30-8796-ad4d33362f16 CLINVAR:15405 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen eddebade-da32-4bde-9da4-f51581eead21 CLINVAR:15405 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56240cd6-238d-4d41-aa28-0f0764d8214d CLINVAR:15239 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c938e2a3-7998-4aa6-884e-6ba9f4393002 CLINVAR:15239 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 341beeef-081e-44fe-9a48-d02680971c81 CLINVAR:15470 biolink:causes MONDO:0013517 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4b6f974b-5e08-4504-a367-bc1ed4b09612 CLINVAR:15470 biolink:is_sequence_variant_of HGNC:4827 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c126f013-aec3-44ea-b35b-52397d1426f6 CLINVAR:1684030 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5210503a-f873-4621-beec-2aa8e45e2571 CLINVAR:1684030 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98d80973-ce2a-498f-a5c6-659cfcd26583 CLINVAR:100409 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 0bf8cc1f-0d1b-43b6-93b4-676d8ed44653 CLINVAR:100409 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 510a91b8-0ce2-43a6-b531-bc05f53bcda5 CLINVAR:507028 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2878f2c5-589e-4340-91ea-6abbfd653c5f CLINVAR:507028 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5cfe7ab-fadc-4732-80c5-b3d9308e580f CLINVAR:15692 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0a0cd3dc-94aa-4c6c-9a0a-ff27338833a9 CLINVAR:15692 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee5db0b-c973-4475-89d6-4c9ecfd23041 CLINVAR:15624 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9784ae92-e6fa-4555-a642-d7eb45d6bfd9 CLINVAR:15624 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b03ac4-58f5-464d-abd9-903a8b07bf5c CLINVAR:804215 biolink:associated_with_increased_likelihood_of MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e0a4cd1f-dae1-4e05-9bce-504f2e884c1a CLINVAR:804215 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 874c913a-8866-4764-81aa-49ebc35f1d06 CLINVAR:439112 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 97ee9a42-8f77-4165-aff3-b4fa956476e6 CLINVAR:439112 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feb7fcb9-ecf5-4d1c-979a-2ab0728f51c0 CLINVAR:15647 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9bc2da6b-505c-4bad-8a7e-6340373ae175 CLINVAR:15647 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e5c06e0-f704-4a01-99cb-92837c75d685 CLINVAR:439111 biolink:genetically_associated_with MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 19733b63-1e10-4dc5-bdf2-55bd7327968f CLINVAR:439111 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50aed662-8916-4f90-b10d-919be5fb44ae CLINVAR:869219 biolink:genetically_associated_with MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 47604f5c-c90a-400a-87e8-c788d6956462 CLINVAR:869219 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64bc7d21-1bfe-44e8-9991-3fb31fe78062 CLINVAR:15651 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen a7dd191a-e15f-420e-8d3a-a10ea50d40e4 CLINVAR:15651 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a73e1a86-b8a7-4f9a-a4aa-8ac20b9c49e1 CLINVAR:375746 biolink:causes MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 761b1238-82f3-4f4b-a4fe-750577dab4fd CLINVAR:375746 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c603c67-8839-4914-b555-bc0237888200 CLINVAR:15690 biolink:associated_with_increased_likelihood_of MONDO:0100562 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7e9e7a6e-d92a-4e73-b735-78a12be93aa0 CLINVAR:15690 biolink:is_sequence_variant_of HGNC:4824 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55606cd6-40da-4b78-becf-9f6fdc192dd7 CLINVAR:1209788 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ef892505-a96c-4877-af92-e5ee851f3814 CLINVAR:1209788 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa1473d-6871-4311-8179-cc75f5906701 CLINVAR:2675763 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 63fbbe72-a9b9-49c2-9813-a3664017b6d0 CLINVAR:2675763 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7697ef3e-51fd-49d5-bf4f-4773350b690f CLINVAR:4032 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0fcaef1-fcaf-42b2-9961-fdc12d58ff2a CLINVAR:4032 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9a32b7e-1020-4251-8e91-e0b8fefe176e CLINVAR:370483 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 63dba25a-8560-405d-ad19-26460d06e122 CLINVAR:370483 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac3e48c5-e7d6-4860-89d3-973791fd2359 CLINVAR:1190471 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 97da01f3-7113-44c3-9fed-e9da76a4ae09 CLINVAR:1190471 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09f96a11-303d-4b4c-9eb6-e4038441931b CLINVAR:140553 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6278d6a8-aa84-4bb9-8039-20d381fffafc CLINVAR:140553 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac375166-6ddc-40a9-bc2a-165587871625 CLINVAR:1323589 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3ac4738d-f97c-4a26-ab56-bacad47b2a0a CLINVAR:1323589 biolink:is_sequence_variant_of HGNC:10809 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbecad11-4e11-4689-9d28-4d331cc796b8 CLINVAR:283179 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen af11fd4a-d677-41b9-95a4-2b4d7c52446d CLINVAR:283179 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33893337-7244-44d4-8cf6-3786a6b1e730 CLINVAR:284122 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 6e371f1e-4fc1-41da-979f-7956188cad7d CLINVAR:284122 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88c3e18d-6d38-4bb8-97b7-3ba57f3940fc CLINVAR:285927 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e626e896-4541-4a90-af18-bee1c43ff01d CLINVAR:285927 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2944cfb-1616-4915-9b24-0e6ee8c6d643 CLINVAR:92407 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1f62c8ff-93ef-455f-95f4-6e41abf5c6f1 CLINVAR:92407 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5be47420-b128-43d2-b68f-6edfdb470f05 CLINVAR:92414 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5654614f-2c25-478e-80df-31cbe8bba3a3 CLINVAR:92414 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0557d8bb-daca-4c4a-9aa7-3469c5e80e27 CLINVAR:869485 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 2f11dd9d-a8c5-4b91-882f-ebef6bbb171b CLINVAR:869485 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac280b2e-eeaa-44c8-a04e-73e3359a8f0d CLINVAR:2165 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e91a5f0b-7b2c-4528-9b3d-916c010b5fa2 CLINVAR:2165 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 046635c8-3022-431c-81d4-dbf0cda5303f CLINVAR:197403 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 027db6fa-59f2-4af3-851d-559a690247d8 CLINVAR:197403 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17184bba-6fd1-4673-833a-eb38f76e47ff CLINVAR:92405 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 13431838-cd1d-4b2f-88d6-c5eae9ebfde8 CLINVAR:92405 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48cdc3ae-eb6e-4d03-bbd0-58877b04ce3f CLINVAR:96685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f325f22a-9d0d-4835-ba94-f7ae86a7a46b CLINVAR:96685 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f0072af-db4e-404c-a372-252eda97339e CLINVAR:282681 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b956fa10-6e25-4806-8d64-6dabdba177e6 CLINVAR:282681 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92057478-940f-4b7b-a627-209ece56b993 CLINVAR:652571 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f835f615-f72a-497e-8b26-8c5c5da13783 CLINVAR:652571 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 211bc83e-d480-4218-93f5-ebc42d7fbd80 CLINVAR:1180840 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7bba566c-1493-4ccd-94da-88100a3f5d12 CLINVAR:1180840 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ea3988f-c67f-4ab6-874d-932ef0628923 CLINVAR:210563 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 4f6f61b1-8d75-45d3-a068-edc527b4c5d9 CLINVAR:210563 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7e68920-9025-4ee7-ab83-5bac3ac8fb6e CLINVAR:128570 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5d7f1448-64be-485d-84bd-965d2b1b4de7 CLINVAR:128570 biolink:is_sequence_variant_of HGNC:1480 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f3e0e88-022d-46af-aeb1-772978f741dc CLINVAR:1407049 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 3c25f521-423b-41be-b0c6-d6d759ba320e CLINVAR:1407049 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab251db6-4797-46d9-a785-912783a9ece3 CLINVAR:233573 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 360a9a82-e9aa-4b5b-becb-db9da3a2088b CLINVAR:233573 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df419d56-90b3-4b06-a316-a8aefdee5bed CLINVAR:3047 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c499e180-c3c0-4d54-a410-f3ef3ed154fe CLINVAR:3047 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7abb36ae-32ed-47a7-a678-cc8169ea5dc7 CLINVAR:644144 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 2af160ca-5c31-46cb-8405-fc0af2e707b9 CLINVAR:644144 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55830880-fbc9-46e3-aee7-7c6d9246c102 CLINVAR:490724 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen c2683006-babd-4538-ae19-5bf900e584cf CLINVAR:490724 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f8f5d70-b5fb-4fb6-a2d1-18623b110c6c CLINVAR:870645 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 466b9f45-88bb-4fa5-9c14-2084826d7762 CLINVAR:870645 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2e1b0fc-36ce-4d15-9648-8af84e17c289 CLINVAR:1054111 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 783b21a5-6a96-41bd-8694-f3370a4821b4 CLINVAR:1054111 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b15cd09-6c15-4e4d-9d6e-bfbf91fd19f7 CLINVAR:187501 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 54970113-0f8e-47de-9e5c-d91ec1b40fe5 CLINVAR:187501 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20fd1855-1d64-4508-95cb-63b7b512d8fc CLINVAR:490685 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 8de38e89-d7fe-4029-9649-71f900535d88 CLINVAR:490685 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27801035-78f0-4b7a-87e9-b389c7be9ec3 CLINVAR:230152 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 03e90439-564e-4e73-9040-e1391e26c5d0 CLINVAR:230152 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a140f40-113d-4ad3-8021-6e6b983f758f CLINVAR:219787 biolink:genetically_associated_with MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5891b51a-dd12-4e12-aa65-72ad9a6b7ee5 CLINVAR:219787 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40bd0e1c-7711-4560-8d7e-3c79b53b6214 CLINVAR:453684 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4ebef101-9861-4259-85a8-fea7fbf31280 CLINVAR:453684 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fcd5402-2dca-4d39-b7bb-cd7bb305c635 CLINVAR:140823 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d055fc26-4a7c-4cfc-9fe9-30edfe545675 CLINVAR:140823 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1d10013-7d43-4dcd-ad3d-5e8daa34bc5b CLINVAR:407464 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c0c15ed6-3739-4fec-8ff0-0e7f5e6a56dc CLINVAR:407464 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88328771-49a0-4320-bbf5-cdd1880875f9 CLINVAR:3148196 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 45149aa7-cb23-46fc-a472-332032651244 CLINVAR:3148196 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 341fb028-c1a5-4d71-963d-3e217e83ed36 CLINVAR:1488412 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 5c317476-e811-4bba-a296-41bb13db9a81 CLINVAR:1488412 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb58c848-68d5-4fb1-b37c-d922fa892fab CLINVAR:304110 biolink:genetically_associated_with MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 84f44280-ed57-4f08-b25d-373ef774fb2f CLINVAR:304110 biolink:is_sequence_variant_of HGNC:27337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 839de27c-d937-4f6a-8054-68150eb351ff CLINVAR:497131 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e39ab706-6b18-4e9c-9651-a47a8213524c CLINVAR:497131 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66b95b3b-8076-43d8-b27a-234c0e59b9e7 CLINVAR:3677022 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 62acddef-613e-4574-a941-0fed8bd824fc CLINVAR:3677022 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9ebbfe6-f29a-4b2f-927b-b0dc3bd0dec5 CLINVAR:94355 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 650f95e3-273b-4977-8981-5f3bd330beb3 CLINVAR:94355 biolink:is_sequence_variant_of HGNC:3097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fa90a2f-92dc-4a17-90bd-10877f55fa31 CAID:CA414435987 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 12eaf680-d076-4be0-b9d9-b8e9b2efb155 CAID:CA414435987 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b024a204-ff7d-4a8f-889d-5ae0e8a83e8b CAID:CA414435980 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1185a7e5-27f4-41d3-9db6-6cdaa79ef979 CAID:CA414435980 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bbc8c47-a916-49e3-b5b7-061ba95dbf54 CLINVAR:618643 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen f129462f-71b8-4a05-b212-1cad11a93e6a CLINVAR:618643 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 232e0669-cb6e-4a08-9389-b92feb6990fc CLINVAR:425730 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 6e675d39-ce9e-40f7-9e9d-0d62f49f9d89 CLINVAR:425730 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a2ddb7d-49ea-44ec-b49b-b221c8e834ac CLINVAR:425732 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c9446d18-e17c-4502-ac5a-138bc60560d9 CLINVAR:425732 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f22da07-1594-4e27-8ae9-90eeef5f13d2 CLINVAR:1163208 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 1bb09e5a-e472-4959-87ba-2d5420ed89d3 CLINVAR:1163208 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c19775db-777e-4a69-9397-b9f09ec0b8a1 CAID:CA414435594 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen e4221a74-e977-40a0-b670-db6bf7f2176e CAID:CA414435594 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68db56d9-0151-47e1-8d5a-1858dcbed943 CAID:CA10567758 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ff0c7b43-8689-4248-b927-adf55ecac0a3 CAID:CA10567758 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 249d56f1-89d0-4743-bfaf-e83a979c74ee CLINVAR:627400 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 7d9a9072-0f1b-4ead-8bdb-63e4be641030 CLINVAR:627400 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be6b893a-1f30-446a-b0ec-dc62b14bcdb1 CLINVAR:548686 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 461080de-32d1-4ebb-b91d-3eea0baf1202 CLINVAR:548686 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59110775-22dc-44b7-93d2-fcf8d91293d1 CLINVAR:1164394 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 82e7d4b4-79c6-413b-b146-a7b1c5f0244d CLINVAR:1164394 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d32147fb-9100-446e-80c1-3e4c957e4fa5 CLINVAR:11317 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 8cf1dab6-feaf-40bf-9ab2-c91fd88c7f6d CLINVAR:11317 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd906b7a-5f8f-4ff3-97b0-58762c6da94c CLINVAR:92325 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c09b29e7-022a-4e61-9b1d-7ea0a1c1f950 CLINVAR:92325 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5194f4a-cefc-4717-9144-23287d31ebea CLINVAR:218422 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1b7c20db-a6ef-4f82-aa16-59034c435e96 CLINVAR:218422 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8712ac40-5562-4c0f-af22-85a177848be7 CAID:CA386295701 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 96b8677b-4862-4f40-bbf0-cc448597993c CAID:CA386295701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d548446-b6f9-48f9-a61a-8096c782332c CLINVAR:583 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 0bb8bf96-1198-4c50-805a-86073aa6795e CLINVAR:583 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2754a206-061d-41b0-aea4-35e55b3b7886 CLINVAR:1504560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0eedea98-bb70-423b-8c39-fdf7822725c6 CLINVAR:1504560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e10886a-4dcb-490e-9817-b1f06047e534 CLINVAR:449353 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen fcd35d23-1b39-4bf2-ac4d-f12e4a07de7b CLINVAR:449353 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dfe2775-79ad-40bb-bf51-ebbb557c9ad7 CLINVAR:665836 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 0c7c67da-4717-46d7-b162-88c7272a9d6c CLINVAR:665836 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c9062a-5ca7-4df2-b304-f683af7a4289 CAID:CA415098539 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 10070891-7a56-401d-b8a0-3e2a16ac5146 CAID:CA415098539 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f5aa329-c729-41fd-80e7-77284032fabd CAID:CA415099400 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 23ce0be3-3801-4be6-bd7c-4e2b97665a33 CAID:CA415099400 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7e62819-ab6b-438e-ad26-485f9a57967f CAID:CA415100409 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b069aace-c3cd-40a7-983c-89a997357c72 CAID:CA415100409 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d16e8b-e72a-4c77-9f09-521119b10e85 CLINVAR:930240 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 34be3ff9-fa1c-4adb-b557-63245ea2c8cb CLINVAR:930240 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e87d83-d025-4fb1-a1bf-d4f9b1f153ad CLINVAR:11310 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 32e809ea-184b-4787-bc4e-1e019b886f98 CLINVAR:11310 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ac54dc8-a57f-47a1-9020-65aad582f336 CLINVAR:11312 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 9a3cdadd-0611-4229-8892-198f90b8c7ef CLINVAR:11312 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 593daec1-a807-44c5-a5ec-b6d6ee364817 CLINVAR:1357576 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen fce1b924-bab7-40c2-a276-e4f01b2fe892 CLINVAR:1357576 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a56e4867-3555-4ee4-a9ea-02ec13e8c030 CLINVAR:458646 biolink:causes MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c7dcd0b7-d993-41ac-b403-376b289e3c09 CLINVAR:458646 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d61f19-9f08-4fa8-97c0-aa3af6e452ca CLINVAR:872971 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b7d6bf62-8d24-48e8-ae82-14e74a539c09 CLINVAR:872971 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b13b136-b88d-49fa-94ed-a681e69c76c9 CLINVAR:974948 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ea238722-d68c-4ba8-b7de-c8d50dee03e8 CLINVAR:974948 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32ca7eab-4e4f-4fb5-993f-c3a17f2c16b1 CLINVAR:1172887 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 84c7ad7c-39ef-4a11-b06f-e8130484c55d CLINVAR:1172887 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f7e1328-3493-4cbe-8c76-1eeb6a6c5988 CAID:CA341292216 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 57cb6831-8688-4077-ad8a-50e896d33c99 CAID:CA341292216 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f947e72-905e-43a1-a6af-22b47c9893a9 CLINVAR:2021273 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen a70ba264-08fa-44a5-a70b-4aac3a75c11e CLINVAR:2021273 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e46eded-c4de-4a28-91ff-5ed9f10f4a0f CAID:CA341289425 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2aad870f-4c04-4f91-9711-831b75464733 CAID:CA341289425 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f98d0de9-112f-40fc-840e-f13b4e2f22d2 CAID:CA2588340115 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4944ed18-f928-404f-8100-a4fc34f95601 CAID:CA2588340115 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98cff9f4-c6c3-4f89-8e93-a3661c1e8ea8 CLINVAR:4710906 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 47ab3bcd-c5f0-4c44-9a8b-b0e09f1ab24c CLINVAR:4710906 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8290de4f-1cd0-4aef-ba8c-bbf461526772 CLINVAR:837244 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b4cdc0de-6bcd-4241-81a0-87abd552a8f2 CLINVAR:837244 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61395d17-4bb6-4871-9996-ab39f49ffced CLINVAR:3724631 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen e9360394-95fd-42e5-ae01-bb09cae239f8 CLINVAR:3724631 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5b28cb5-2f48-4a93-8b87-02120315968a CLINVAR:914586 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen a4cc8890-a2ca-406c-9bee-62efd888cca9 CLINVAR:914586 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf64e48e-3521-404f-972a-3a19927819ea CLINVAR:420900 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 2b7110bd-318f-49b0-92e8-5af1c58fe6e9 CLINVAR:420900 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 503b36bc-b2b3-4499-897c-bc3979c91d72 CLINVAR:528335 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 454cdc8d-6680-4421-9677-579c20c50867 CLINVAR:528335 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b212890c-d231-4b21-af95-77456c14e6b9 CLINVAR:1410844 biolink:genetically_associated_with MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen ddf95f9a-ecc4-4dc3-8936-1fe4201d29e3 CLINVAR:1410844 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b21bc00b-4103-429b-b4de-02a175a36d98 CLINVAR:851448 biolink:associated_with_increased_likelihood_of MONDO:0018544 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen b29180dc-e75a-46ba-9960-dfbbf418e233 CLINVAR:851448 biolink:is_sequence_variant_of HGNC:61 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56bbcc80-912c-42b7-b27a-533ca17cabff CLINVAR:1420866 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen d008e119-e94c-4a18-8c0d-a9f41787838a CLINVAR:1420866 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53ddb4fb-ad1a-4e05-949c-9a2ce49fd859 CLINVAR:219532 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 859f81be-c45d-4e13-90c1-7275066095a7 CLINVAR:219532 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 037c1768-b22d-446a-a589-b1e00500eeed CLINVAR:934410 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen dc47e1a5-9ffe-405e-813e-d2b24b5dbed7 CLINVAR:934410 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bf88a1a-0941-4f42-8cac-3e2fbb76a862 CLINVAR:480759 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen bc1e0d24-1eec-45da-b659-ae8e52d92680 CLINVAR:480759 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67e57843-1873-4b1a-93e4-54b07dd2e732 CLINVAR:486555 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 5894e237-937d-4ed1-bf2e-dc73196ebb66 CLINVAR:486555 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d69063fe-f9ec-473a-886b-1cc528b51509 CLINVAR:988616 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen c8b1cbe8-1263-4ec6-9470-dc5a0ed8c916 CLINVAR:988616 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de13af9-3a7f-4998-8caa-38e23c86f900 CAID:CA2695213741 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 99c7fb8d-2dd1-49ac-acc0-bb988f71cc5c CAID:CA2695213741 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df30cb50-d9e6-41bc-9625-d58cfb3bea9e CLINVAR:1072413 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 077a2453-abad-4bbd-a2f4-30742c7ab456 CLINVAR:1072413 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5f9474c-07b9-4288-8e7d-2b6d98d13351 CLINVAR:13148 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cdacdb66-50e9-40c1-8ea1-f634eb82dcfe CLINVAR:13148 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2519e4a-8c57-4857-bd93-e92679dcd4d0 CAID:CA376060150 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen c80bd842-e1d3-4230-85e7-ed75ce6c5e64 CAID:CA376060150 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479a1337-a163-4930-9dbb-11162cd18c24 CLINVAR:624584 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 642959e9-fea8-475b-a339-47ccd704cdea CLINVAR:624584 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dda7d0b-5f6d-4e80-a930-f2333dc68caa CLINVAR:488725 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 07d111c0-a8f5-43be-b596-a7f199425b34 CLINVAR:488725 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d5972f2-7efe-4c0f-ac69-1a73a7ce9c8e CLINVAR:2943710 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 87027669-dfdb-41e8-9f84-7f7bab362596 CLINVAR:2943710 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee229f92-d597-4a6e-b2c8-0a94a2a4c482 CLINVAR:36714 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 74569ac2-f33a-4648-bee1-6dc3d5729bcb CLINVAR:36714 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e8ef792-f971-4f3b-938c-cb033c1d08fb CLINVAR:13146 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 036e2c5a-c58b-4587-8318-41064718b904 CLINVAR:13146 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b5e959f-6eda-4549-bef6-48ffcafc0884 CAID:CA386958852 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4e6bf021-066c-48c3-8fdc-b136acbb54e8 CAID:CA386958852 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5984617-f7b9-4273-a5ad-aa269ed432cd CAID:CA386966502 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 24788007-5b71-4d9e-a4f9-376a747c9347 CAID:CA386966502 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c658e09-82da-4692-9829-da74c55ee407 CLINVAR:562363 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 4fef2fd8-1600-47a8-8424-8dcbbbdb4595 CLINVAR:562363 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a05e6cd-d107-4ef6-a73b-e65f99795317 CLINVAR:972775 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 06fa8538-eeae-40b2-ad67-ad9dd41510db CLINVAR:972775 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e062dd0-6f94-4e61-9b79-f48e3813202e CLINVAR:804857 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen b7c3843b-560c-44d6-8de0-c87fd34cd73a CLINVAR:804857 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2b2f199-b786-488d-95e0-3f74d422e7ee CAID:CA4239432 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen fa43f527-88ec-4d88-9846-8ea1f7adc955 CAID:CA4239432 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce9b5255-e788-4e05-8656-9836415d37dc CAID:CA4239511 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 6c0d8aa0-6aa1-4bbf-b31b-ca1af13b30df CAID:CA4239511 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d39989f3-a844-4ad1-bce8-32ee536a15af CAID:CA4239428 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen eb301bdb-7c8d-4d3a-bdb2-fdcb234d12ab CAID:CA4239428 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edd697d4-bdf8-4ab1-85b8-5f9d1c956894 CLINVAR:1770532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 115d4b9f-3833-4fbd-b4d6-d6553257b4af CLINVAR:1770532 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b041e7e-deee-4b8b-b4ca-93e18e37a6df CLINVAR:2734986 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen e56ac4c8-4f17-40ae-ad1e-74c84bb56216 CLINVAR:2734986 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ba8f251-9694-4eaf-9bcc-0f367a3f0e34 CAID:CA367396913 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 4af98a52-74fb-478d-8234-dd79e6d6197a CAID:CA367396913 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cf64c42-55eb-4ce2-9fde-e6b2e1a49e1c CLINVAR:1761162 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 43345f7f-c25a-4dac-b7b5-2d822a700511 CLINVAR:1761162 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 159bb299-8d49-4c34-8bd0-f2f4db850bc3 CLINVAR:3720744 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen b34b49f8-e56b-4a88-8716-7bbe4c3304b1 CLINVAR:3720744 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceffaec6-588e-4cb7-9d1b-115b1a539987 CAID:CA367398185 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 068561fe-3fc2-4f54-a749-36d290e63c2e CAID:CA367398185 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d62dfcd1-ca37-46d7-9f6f-0d514625d211 CAID:CA367398898 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 13a3b11f-df6e-4bdb-bdf6-5b2547726e6a CAID:CA367398898 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce6a2980-6f66-4156-ba51-5300022122df CLINVAR:3030720 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen f647e23f-7433-4e6d-b3dc-0a3d94c32512 CLINVAR:3030720 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d9f508c-7f6d-429c-a086-a28135f5742d CLINVAR:918070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen cedf8c6d-e649-4ae6-8fae-efae2a5ea9a2 CLINVAR:918070 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c331aae0-348e-4e60-b7c4-9a88292dcfbd CLINVAR:635988 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen ac2091d2-5456-44e1-aa0a-45db2e13c600 CLINVAR:635988 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0b1847a-c648-42c2-a3da-7a33e6e965b0 CLINVAR:92870 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 3dad8c0b-3d3b-43b6-b2fc-4fcdc6dc5ee3 CLINVAR:92870 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ea9a0a-cc95-4fa9-9bfb-34f292c25896 CLINVAR:236114 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 7f61ab8b-cf1a-4bbe-b951-1bf23110166f CLINVAR:236114 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50e1c3e2-77d2-4261-a0ae-307e45aeff76 CLINVAR:666959 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Likely Pathogenic infores:clingen 97ee785d-6b41-426d-96b6-b32834049a6c CLINVAR:666959 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 324f83ac-6bb5-4d88-9c3b-f4f0570afdac CAID:CA414435596 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Pathogenic infores:clingen 1a21335f-6c38-4e57-9891-c544f118fe18 CAID:CA414435596 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75660085-9190-4692-83f0-ecda0bddd3e2 CLINVAR:916723 biolink:genetically_associated_with MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 29d763aa-4428-41e8-8fd3-0a611b8368ec CLINVAR:916723 biolink:is_sequence_variant_of HGNC:34 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60b2b6bc-3f1e-428b-9af5-25564cf5785a CLINVAR:1517581 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 9ce3c58d-124b-4c4f-b3af-68d9825e7b25 CLINVAR:1517581 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dd5f2bd-7772-45b2-a8a9-bc4208eb5c70 CLINVAR:134539 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion False Uncertain Significance infores:clingen 31b2d5f2-0ed4-42f6-8f23-f95a4862dfa6 CLINVAR:134539 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen